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Results

Genetic panels

Search by name or gene.

NeoPainel is derived from whole-exome sequencing (WES). Super Painel is derived from whole-genome sequencing (WGS). Check the genes and turnaround options for each test.

86 panels found in 12 specialties

Open a specialty to compare the options. Search also checks the complete gene lists.

Cardiology

8 options available

NeoPainel

NeoPainel for Arrhythmias

Based on whole-exome sequencing (WES)

347 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AGPAT2, AHCY, AKAP9, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CALM3, CAP2, CASQ2, CAV3, CAVIN1, CDH2, CENPE, CEP19, CHKB, CLCA2, CLIC2, CLN3, CNBP, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GJA5, GJC1, GLA, GLB1, GMPPB, GNAI2, GNB2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HFE, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KIF20A, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRPL3, MRPL44, MRPS22, MRPS7, MTFMT, MTO1, MT-TI, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEXN, NKX2-5, NONO, NOTCH1, NPPA, NRAP, NRAS, NUBPL, NUP155, PAM16, PCCA, PCCB, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2, POLG, POMT1, PPA2, PPCS, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1, PSEN2, PSMB4, PSMB8, PSMB9, PTPN11, RAB3GAP2, RAF1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RRAGD, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGO1, SGSH, SHMT2, SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC4A3, SLC6A6, SLMAP, SNTA1, SOD2, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TAFAZZIN, TANGO2, TAPT1, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TGFB3, TIMMDC1, TMEM126A, TMEM126B, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIM63, TRIT1, TRMT5, TRNT1, TRPM4, TRPM7, TSC1, TSFM, TTN, TTR, TWNK, TXNRD2, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XPNPEP3, YARS2, ZFHX3

Super Painel

Super Painel for Arrhythmias

Based on whole-genome sequencing (WGS)

347 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AGPAT2, AHCY, AKAP9, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CALM3, CAP2, CASQ2, CAV3, CAVIN1, CDH2, CENPE, CEP19, CHKB, CLCA2, CLIC2, CLN3, CNBP, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GJA5, GJC1, GLA, GLB1, GMPPB, GNAI2, GNB2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HFE, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KIF20A, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRPL3, MRPL44, MRPS22, MRPS7, MTFMT, MTO1, MT-TI, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEXN, NKX2-5, NONO, NOTCH1, NPPA, NRAP, NRAS, NUBPL, NUP155, PAM16, PCCA, PCCB, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2, POLG, POMT1, PPA2, PPCS, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1, PSEN2, PSMB4, PSMB8, PSMB9, PTPN11, RAB3GAP2, RAF1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RRAGD, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGO1, SGSH, SHMT2, SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC4A3, SLC6A6, SLMAP, SNTA1, SOD2, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TAFAZZIN, TANGO2, TAPT1, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TGFB3, TIMMDC1, TMEM126A, TMEM126B, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIM63, TRIT1, TRMT5, TRNT1, TRPM4, TRPM7, TSC1, TSFM, TTN, TTR, TWNK, TXNRD2, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XPNPEP3, YARS2, ZFHX3

NeoPainel

NeoPainel for Cardiomyopathies

Based on whole-exome sequencing (WES)

347 genes

Standard

30 calendar days, after order confirmation

Fast

15 calendar days, after order confirmation

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AGPAT2, AHCY, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CALR3, CAP2, CASQ2, CAV3, CAVIN1, CBL, CDH2, CENPE, CEP19, CHKB, CLIC2, CLN3, CNBP, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FBXO32, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATA6, GATAD1, GBE1, GJA5, GLA, GLB1, GMPPB, GNAI2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HFE, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNQ1, KIF20A, KLF10, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LMOD2, LZTR1, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRAS, MRPL3, MRPL44, MRPS22, MRPS7, MTFMT, MTO1, MT-TI, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYLK3, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEBL, NEU1, NEXN, NF1, NKX2-5, NONO, NPPA, NRAP, NRAS, NUBPL, NUP155, PAM16, PCCA, PCCB, PDLIM3, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2, POLG, POMT1, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1, PSEN2, PSMB4, PSMB8, PSMB9, PTPN11, QRSL1, RAB3GAP2, RAF1, RASA1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RPSA, RRAGD, RRAS, RYR2, SCN1B, SCN2B, SCN3B, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGSH, SHMT2, SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC6A6, SOD2, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TAFAZZIN, TANGO2, TAPT1, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TFR2, TGFB3, TIMMDC1, TMEM126A, TMEM126B, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIM63, TRIT1, TRMT5, TRNT1, TRPM7, TSC1, TSFM, TTN, TTR, TWNK, TXNRD2, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XPNPEP3, YARS2, YWHAE

Super Painel

Super Painel for Cardiomyopathies

Based on whole-genome sequencing (WGS)

347 genes

Standard

30 calendar days, after order confirmation

Fast

15 calendar days, after order confirmation

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AGPAT2, AHCY, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CALR3, CAP2, CASQ2, CAV3, CAVIN1, CBL, CDH2, CENPE, CEP19, CHKB, CLIC2, CLN3, CNBP, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FBXO32, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATA6, GATAD1, GBE1, GJA5, GLA, GLB1, GMPPB, GNAI2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HFE, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNQ1, KIF20A, KLF10, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LMOD2, LZTR1, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRAS, MRPL3, MRPL44, MRPS22, MRPS7, MTFMT, MTO1, MT-TI, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYLK3, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEBL, NEU1, NEXN, NF1, NKX2-5, NONO, NPPA, NRAP, NRAS, NUBPL, NUP155, PAM16, PCCA, PCCB, PDLIM3, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2, POLG, POMT1, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1, PSEN2, PSMB4, PSMB8, PSMB9, PTPN11, QRSL1, RAB3GAP2, RAF1, RASA1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RPSA, RRAGD, RRAS, RYR2, SCN1B, SCN2B, SCN3B, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGSH, SHMT2, SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC6A6, SOD2, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TAFAZZIN, TANGO2, TAPT1, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TFR2, TGFB3, TIMMDC1, TMEM126A, TMEM126B, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIM63, TRIT1, TRMT5, TRNT1, TRPM7, TSC1, TSFM, TTN, TTR, TWNK, TXNRD2, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XPNPEP3, YARS2, YWHAE

NeoPainel

NeoPainel for Marfan Syndrome

Based on whole-exome sequencing (WES)

71 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GORAB, GZF1, HRAS, IPO8, KIF22, LOX, LTBP2, LTBP3, LTBP4, MED12, MYH11, MYLK, NKAP, NOTCH1, PIK3R1, PLOD1, PPP1CB, PRDM5, PRKG1, PYCR1, RIN2, ROBO4, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

Super Painel

Super Painel for Marfan Syndrome

Based on whole-genome sequencing (WGS)

71 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GORAB, GZF1, HRAS, IPO8, KIF22, LOX, LTBP2, LTBP3, LTBP4, MED12, MYH11, MYLK, NKAP, NOTCH1, PIK3R1, PLOD1, PPP1CB, PRDM5, PRKG1, PYCR1, RIN2, ROBO4, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

NeoPainel

NeoPainel for Noonan Syndrome and RASopathies

Based on whole-exome sequencing (WES)

33 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MRAS, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2, SPRY1, SYNGAP1, YWHAZ

Super Painel

Super Painel for Noonan Syndrome and RASopathies

Based on whole-genome sequencing (WGS)

33 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MRAS, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2, SPRY1, SYNGAP1, YWHAZ

Dermatology

6 options available

NeoPainel

NeoPainel for Ehlers-Danlos Syndrome and Cutis Laxa

Based on whole-exome sequencing (WES)

62 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, GZF1, HRAS, KIF22, LOX, LTBP4, MOCS1, PIK3R1, PLOD1, PLP1, PPP1CB, PRDM5, PYCR1, RIN2, SLC2A10, SLC39A13, SMAD2, SMAD3, SPARC, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

Super Painel

Super Painel for Ehlers-Danlos Syndrome and Cutis Laxa

Based on whole-genome sequencing (WGS)

62 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, GZF1, HRAS, KIF22, LOX, LTBP4, MOCS1, PIK3R1, PLOD1, PLP1, PPP1CB, PRDM5, PYCR1, RIN2, SLC2A10, SLC39A13, SMAD2, SMAD3, SPARC, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

NeoPainel

NeoPainel for Epidermolysis Bullosa with CNV Analysis

Based on whole-exome sequencing (WES)

52 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

AAGAB, AQP5, ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, CTSC, DSG1, DSG2, DSG4, DSP, DST, ENPP1, EXPH5, FERMT1, FLG2, GJB6, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KANK2, KLHL24, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, POMP, RHBDF2, RSPO1, SERPINB7, SERPINB8, SLURP1, TGM5, TRPV3

Super Painel

Super Painel for Epidermolysis Bullosa with CNV Analysis

Based on whole-genome sequencing (WGS)

52 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

AAGAB, AQP5, ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, CTSC, DSG1, DSG2, DSG4, DSP, DST, ENPP1, EXPH5, FERMT1, FLG2, GJB6, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KANK2, KLHL24, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, POMP, RHBDF2, RSPO1, SERPINB7, SERPINB8, SLURP1, TGM5, TRPV3

NeoPainel

NeoPainel for Ichthyosis and Ectodermal Dysplasia

Based on whole-exome sequencing (WES)

97 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSL, BCS1L, CAST, CDH1, CDH3, CDSN, CERS3, CLDN1, COG6, CSTA, CYP4F22, DLX3, DSP, EBP, EDA, EDAR, EDARADD, ELOVL1, ELOVL4, ERCC2, ERCC3, EVC, EVC2, FLG, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HOXC13, IFT122, ITPR2, JUP, KDF1, KDSR, KREMEN1, KRT1, KRT10, KRT14, KRT2, KRT74, KRT83, KRT85, KRT9, LIPN, LORICRIN, LOXL2, LRP6, LTBP3, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, NIPAL4, NLRP1, PAX9, PEX7, PHGDH, PHYH, PKP1, PNPLA1, PNPLA2, POMP, PORCN, PRKD1, PSAT1, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SMARCAD1, SNAP29, SPINK5, ST14, STS, SULT2B1, SUMF1, TGM1, TGM5, TP63, TWIST2, VPS33B, WDR35, WNT10A, ZMPSTE24

Super Painel

Super Painel for Ichthyosis and Ectodermal Dysplasia

Based on whole-genome sequencing (WGS)

97 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSL, BCS1L, CAST, CDH1, CDH3, CDSN, CERS3, CLDN1, COG6, CSTA, CYP4F22, DLX3, DSP, EBP, EDA, EDAR, EDARADD, ELOVL1, ELOVL4, ERCC2, ERCC3, EVC, EVC2, FLG, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HOXC13, IFT122, ITPR2, JUP, KDF1, KDSR, KREMEN1, KRT1, KRT10, KRT14, KRT2, KRT74, KRT83, KRT85, KRT9, LIPN, LORICRIN, LOXL2, LRP6, LTBP3, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, NIPAL4, NLRP1, PAX9, PEX7, PHGDH, PHYH, PKP1, PNPLA1, PNPLA2, POMP, PORCN, PRKD1, PSAT1, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SMARCAD1, SNAP29, SPINK5, ST14, STS, SULT2B1, SUMF1, TGM1, TGM5, TP63, TWIST2, VPS33B, WDR35, WNT10A, ZMPSTE24

Endocrinology

4 options available

NeoPainel

NeoPainel for Short Stature

Based on whole-exome sequencing (WES)

97 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCA2, ACAN, ADAMTS10, ANKRD11, ATP2B1, ATR, BRAF, CAMK2B, CBL, CCDC8, CDC6, CDKN1C, CDT1, CEP152, CEP63, CHD7, CLEC16A, COL10A1, COL2A1, COL9A1, COL9A2, COMP, CPAP, CREBBP, CUL7, DBR1, FBN1, FGF8, FGFR1, FGFR3, FTO, GH1, GHR, GHRHR, GHSR, GLI2, GLI3, GNAS, GPKOW, GPR101, HESX1, HRAS, IARS1, IARS2, IGF1, IGF1R, IGF2, IGFALS, IHH, INTS1, KRAS, LHX3, LHX4, LIG4, MAP2K1, MORC2, NHEJ1, NPPC, NPR2, NPR3, NRAS, NUF2, OBSL1, ORC1, ORC4, ORC6, OTX2, PAPSS2, PCNT, PITX2, POU1F1, PRKAR1A, PRKDC, PROP1, PTH1R, PTPN11, QRFPR, RAF1, RBBP8, RNPC3, SHOC2, SHOX, SLC30A7, SMARCC2, SMG8, SOS1, SOX3, SOX9, SRCAP, STAT5B, TAF8, TCF4, TET3, VPS4A, XRCC4, ZNF668, ZPR1

Super Painel

Super Painel for Short Stature

Based on whole-genome sequencing (WGS)

97 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCA2, ACAN, ADAMTS10, ANKRD11, ATP2B1, ATR, BRAF, CAMK2B, CBL, CCDC8, CDC6, CDKN1C, CDT1, CEP152, CEP63, CHD7, CLEC16A, COL10A1, COL2A1, COL9A1, COL9A2, COMP, CPAP, CREBBP, CUL7, DBR1, FBN1, FGF8, FGFR1, FGFR3, FTO, GH1, GHR, GHRHR, GHSR, GLI2, GLI3, GNAS, GPKOW, GPR101, HESX1, HRAS, IARS1, IARS2, IGF1, IGF1R, IGF2, IGFALS, IHH, INTS1, KRAS, LHX3, LHX4, LIG4, MAP2K1, MORC2, NHEJ1, NPPC, NPR2, NPR3, NRAS, NUF2, OBSL1, ORC1, ORC4, ORC6, OTX2, PAPSS2, PCNT, PITX2, POU1F1, PRKAR1A, PRKDC, PROP1, PTH1R, PTPN11, QRFPR, RAF1, RBBP8, RNPC3, SHOC2, SHOX, SLC30A7, SMARCC2, SMG8, SOS1, SOX3, SOX9, SRCAP, STAT5B, TAF8, TCF4, TET3, VPS4A, XRCC4, ZNF668, ZPR1

NeoPainel

NeoPainel for Monogenic Diabetes (MODY)

Based on whole-exome sequencing (WES)

99 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCC8, ADRA2A, AGPAT2, AIRE, AKT2, ALMS1, APPL1, BLK, BLM, BSCL2, CAV1, CAVIN1, CEL, CIDEC, CISD2, CNOT1, COQ2, COQ9, CTLA4, DCAF17, DNAJC3, DOCK8, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, EPHX1, FBN1, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, ITCH, JAK1, KCNJ11, KCNJ6, KLF11, LIPE, LMNA, LPL, LRBA, MAFA, MFN2, MNX1, MT-TE, MT-TK, MT-TL1, MT-TS2, MTX2, NEUROD1, NEUROG3, NFKB1, NKX2-2, OTULIN, PAX4, PAX6, PCBD1, PCNT, PCYT1A, PDHX, PDX1, PIK3R1, PLAGL1, PLIN1, POC1A, POLD1, POLR3GL, PPARG, PPP1R15B, PSMA3, PSMB4, PSMB8, PTF1A, RFX6, SH2B1, SIRT1, SLC19A2, SLC29A3, SLC2A2, STAT1, STAT3, STAT5B, TBC1D4, TNFAIP3, TRMT10A, VIM, WFS1, WRN, ZBTB20, ZFP57, ZMPSTE24

Super Painel

Super Painel for Monogenic Diabetes (MODY)

Based on whole-genome sequencing (WGS)

99 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCC8, ADRA2A, AGPAT2, AIRE, AKT2, ALMS1, APPL1, BLK, BLM, BSCL2, CAV1, CAVIN1, CEL, CIDEC, CISD2, CNOT1, COQ2, COQ9, CTLA4, DCAF17, DNAJC3, DOCK8, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, EPHX1, FBN1, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, ITCH, JAK1, KCNJ11, KCNJ6, KLF11, LIPE, LMNA, LPL, LRBA, MAFA, MFN2, MNX1, MT-TE, MT-TK, MT-TL1, MT-TS2, MTX2, NEUROD1, NEUROG3, NFKB1, NKX2-2, OTULIN, PAX4, PAX6, PCBD1, PCNT, PCYT1A, PDHX, PDX1, PIK3R1, PLAGL1, PLIN1, POC1A, POLD1, POLR3GL, PPARG, PPP1R15B, PSMA3, PSMB4, PSMB8, PTF1A, RFX6, SH2B1, SIRT1, SLC19A2, SLC29A3, SLC2A2, STAT1, STAT3, STAT5B, TBC1D4, TNFAIP3, TRMT10A, VIM, WFS1, WRN, ZBTB20, ZFP57, ZMPSTE24

Gastroenterology and Hepatology

8 options available

NeoPainel

NeoPainel for Chronic Cholestasis

Based on whole-exome sequencing (WES)

140 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ACOX2, ADK, AKR1D1, ALAS2, ALDOB, ALG1, ALG8, AMACR, ANKS6, AP1S1, ARG1, ASS1, ATP6AP1, ATP7B, ATP8B1, B4GALT1, BAAT, BCS1L, BLVRA, CC2D2A, CDAN1, CFTR, CLDN1, CLPX, COG6, COG7, CTNS, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, EHHADH, EPHX1, FAH, FECH, FH, G6PD, GALE, GALT, GLI2, GLIS3, GNAS, GPBAR1, HADHA, HADHB, HNF1A, HNF1B, HSD17B4, HSD3B7, INVS, ITCH, JAG1, KIF12, KMT2D, LIPA, LSR, MKS1, MMACHC, MPV17, MVK, MYO5B, NEK8, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OTC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD1L1, PKHD1, POLG, POMC, PPM1F, PSKH1, PTF1A, RFX6, SC5D, SCP2, SCYL1, SERAC1, SERPINA1, SLC10A1, SLC10A2, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC27A5, SLC30A10, SLC51A, SLC51B, SLCO1B3, SMPD1, SMS, STXBP2, TALDO1, TBX19, TFAM, TFR2, TJP2, TMEM216, TRAPPC11, TRMU, TSFM, TWNK, UGT1A1, USP53, UTP4, VIPAS39, VMA21, VMA22, VPS33B, VPS50, WDR83OS, ZFYVE19

Super Painel

Super Painel for Chronic Cholestasis

Based on whole-genome sequencing (WGS)

140 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ACOX2, ADK, AKR1D1, ALAS2, ALDOB, ALG1, ALG8, AMACR, ANKS6, AP1S1, ARG1, ASS1, ATP6AP1, ATP7B, ATP8B1, B4GALT1, BAAT, BCS1L, BLVRA, CC2D2A, CDAN1, CFTR, CLDN1, CLPX, COG6, COG7, CTNS, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, EHHADH, EPHX1, FAH, FECH, FH, G6PD, GALE, GALT, GLI2, GLIS3, GNAS, GPBAR1, HADHA, HADHB, HNF1A, HNF1B, HSD17B4, HSD3B7, INVS, ITCH, JAG1, KIF12, KMT2D, LIPA, LSR, MKS1, MMACHC, MPV17, MVK, MYO5B, NEK8, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OTC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD1L1, PKHD1, POLG, POMC, PPM1F, PSKH1, PTF1A, RFX6, SC5D, SCP2, SCYL1, SERAC1, SERPINA1, SLC10A1, SLC10A2, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC27A5, SLC30A10, SLC51A, SLC51B, SLCO1B3, SMPD1, SMS, STXBP2, TALDO1, TBX19, TFAM, TFR2, TJP2, TMEM216, TRAPPC11, TRMU, TSFM, TWNK, UGT1A1, USP53, UTP4, VIPAS39, VMA21, VMA22, VPS33B, VPS50, WDR83OS, ZFYVE19

NeoPainel

NeoPainel for Hemochromatosis

Based on whole-exome sequencing (WES)

8 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

BMP2, FTH1, FTL, HAMP, HFE, HJV, SLC40A1, TFR2

Super Painel

Super Painel for Hemochromatosis

Based on whole-genome sequencing (WGS)

8 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

BMP2, FTH1, FTL, HAMP, HFE, HJV, SLC40A1, TFR2

NeoPainel

NeoPainel for Hypertriglyceridemias and Pancreatitis

Based on whole-exome sequencing (WES)

53 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCA1, AGPAT2, AKT2, APOA5, APOC2, APOE, BANF1, BSCL2, CASR, CAV1, CAVIN1, CFTR, CIDEC, CLDN2, CPA1, CTRC, CYP27A1, DYRK1B, FBN1, GPD1, GPIHBP1, INSR, KCNJ6, LIPA, LIPE, LMF1, LMNA, LMNB2, LPIN1, LPL, MFN2, MTX2, NSMCE2, OTULIN, PIK3R1, PLIN1, POLD1, POLR3A, POMP, PPARG, PRIM1, PRSS1, PSMA3, PSMB4, PSMB8, PSMB9, SLC25A24, SMPD1, SPINK1, SPRTN, UBR1, WRN, ZMPSTE24

Super Painel

Super Painel for Hypertriglyceridemias and Pancreatitis

Based on whole-genome sequencing (WGS)

53 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCA1, AGPAT2, AKT2, APOA5, APOC2, APOE, BANF1, BSCL2, CASR, CAV1, CAVIN1, CFTR, CIDEC, CLDN2, CPA1, CTRC, CYP27A1, DYRK1B, FBN1, GPD1, GPIHBP1, INSR, KCNJ6, LIPA, LIPE, LMF1, LMNA, LMNB2, LPIN1, LPL, MFN2, MTX2, NSMCE2, OTULIN, PIK3R1, PLIN1, POLD1, POLR3A, POMP, PPARG, PRIM1, PRSS1, PSMA3, PSMB4, PSMB8, PSMB9, SLC25A24, SMPD1, SPINK1, SPRTN, UBR1, WRN, ZMPSTE24

NeoPainel

NeoPainel for Pancreatitis

Based on whole-exome sequencing (WES)

12 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, LMF1, LPL, PRSS1, SPINK1, TRPV6

Super Painel

Super Painel for Pancreatitis

Based on whole-genome sequencing (WGS)

12 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, LMF1, LPL, PRSS1, SPINK1, TRPV6

Hematology and Immunology

10 options available

NeoPainel

NeoPainel for Fanconi Anemia with CNV Analysis

Based on whole-exome sequencing (WES)

184 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCB7, ABCD4, ABCG5, ABCG8, ACD, ADA, ADA2, ADH5, AK1, ALAS2, ALDOA, AMMECR1, AMN, ANK1, APOB, ATP11C, ATRX, BOLA2, BPGM, BRCA1, BRCA2, BRIP1, CBLIF, CD46, CD59, CDAN1, CDIN1, CFB, CFH, CFI, COL4A1, COQ2, COX4I1, COX4I2, CPOX, CTC1, CUBN, CYB5R3, DHFR, DKC1, DNAJC19, DNAJC21, EFL1, EPB41, EPB42, EPO, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FECH, FTCD, G6PD, GATA1, GCLC, GLRX5, GPI, GSR, GSS, HBA1, HBA2, HBB, HK1, HMOX1, HSPA9, IREB2, IVD, KCNN4, KIF23, KLF1, LARS2, LCAT, LMBRD1, LPIN2, MAD2L2, MDM4, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPIG6B, MTHFD1, MTR, MTRR, MYSM1, NBN, NHP2, NOP10, NT5C3A, PALB2, PANK2, PARN, PCCA, PCCB, PFKM, PGK1, PIEZO1, PKLR, PNPO, PRF1, PUS1, RACGAP1, RAD51, RAD51C, RFWD3, RGL2, RHAG, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPLP0, RPS10, RPS11, RPS14, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS28, RPS29, RPS7, RTEL1, SBDS, SC5D, SEC23B, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC46A1, SLC4A1, SLX4, SPTA1, SPTB, SRC, SRP54, SRP72, STEAP3, TALDO1, TCN2, TERT, TFRC, TGFB1, THBD, TINF2, TKFC, TMPRSS6, TP53, TPI1, TRNT1, TSR2, UBE2T, UMPS, UROD, UROS, VPS13A, VPS4A, WRAP53, XRCC2, YARS2, ZCCHC8

Super Painel

Super Painel for Fanconi Anemia with CNV Analysis

Based on whole-genome sequencing (WGS)

184 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCB7, ABCD4, ABCG5, ABCG8, ACD, ADA, ADA2, ADH5, AK1, ALAS2, ALDOA, AMMECR1, AMN, ANK1, APOB, ATP11C, ATRX, BOLA2, BPGM, BRCA1, BRCA2, BRIP1, CBLIF, CD46, CD59, CDAN1, CDIN1, CFB, CFH, CFI, COL4A1, COQ2, COX4I1, COX4I2, CPOX, CTC1, CUBN, CYB5R3, DHFR, DKC1, DNAJC19, DNAJC21, EFL1, EPB41, EPB42, EPO, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FECH, FTCD, G6PD, GATA1, GCLC, GLRX5, GPI, GSR, GSS, HBA1, HBA2, HBB, HK1, HMOX1, HSPA9, IREB2, IVD, KCNN4, KIF23, KLF1, LARS2, LCAT, LMBRD1, LPIN2, MAD2L2, MDM4, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPIG6B, MTHFD1, MTR, MTRR, MYSM1, NBN, NHP2, NOP10, NT5C3A, PALB2, PANK2, PARN, PCCA, PCCB, PFKM, PGK1, PIEZO1, PKLR, PNPO, PRF1, PUS1, RACGAP1, RAD51, RAD51C, RFWD3, RGL2, RHAG, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPLP0, RPS10, RPS11, RPS14, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS28, RPS29, RPS7, RTEL1, SBDS, SC5D, SEC23B, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC46A1, SLC4A1, SLX4, SPTA1, SPTB, SRC, SRP54, SRP72, STEAP3, TALDO1, TCN2, TERT, TFRC, TGFB1, THBD, TINF2, TKFC, TMPRSS6, TP53, TPI1, TRNT1, TSR2, UBE2T, UMPS, UROD, UROS, VPS13A, VPS4A, WRAP53, XRCC2, YARS2, ZCCHC8

NeoPainel

NeoPainel for Primary Immunodeficiencies and Inflammatory Diseases

Based on whole-exome sequencing (WES)

583 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

A2ML1, ABCD4, ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS3, ADAR, ADNP, AGA, AICDA, AIRE, AK2, ALG1, ALG12, ALPI, ALPK1, ANGPT1, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, BUB1B, C1QA, C1QB, C1QC, C1R, C1S, C8A, C8B, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CCBE1, CCDC39, CCDC40, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CDK9, CDSN, CEBPE, CFAP298, CFAP300, CFAP418, CFB, CFD, CFH, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHAMP1, CHD1, CHD7, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CNBP, COG6, COG7, COLEC11, COPA, CORO1A, CPN1, CR2, CREBBP, CRIPT, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1B, DCLRE1C, DEAF1, DEF6, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DRC2, DRC4, DSG1, DTNBP1, EFL1, EGFR, ELANE, ELF4, ELP1, EPCAM, EPG5, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBXL4, FCGR2A, FCGR3A, FCGRT, FCHO1, FCN3, FERMT3, FMO3, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, FPR2, G6PC3, G6PD, GAD1, GALNS, GAS2L2, GATA1, GATA2, GFI1, GINS1, GSS, GTF2H5, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HGSNAT, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTR1A, HTRA2, HYDIN, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17A, IL17F, IL17RA, IL17RC, IL18, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, IVD, IVNS1ABP, JAGN1, JAK1, JAK3, KDM6A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LEP, LIG1, LIG4, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MCIDAS, MCM4, MEFV, MGP, MMAA, MMAB, MMACHC, MMUT, MOGS, MPI, MPL, MPO, MRE11, MRTFA, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFASC, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NGF, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, ORAI1, OSTM1, OTULIN, OXCT1, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PI4KA, PIK3CD, PIK3R1, PLCG2, PLEKHM1, PLG, PLVAP, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PPP1R21, PRF1, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, REL, RELA, RELB, RET, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RORC, RPL11, RPL15, RPL18, RPL19, RPL26, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SART3, SBDS, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEMA3E, SERAC1, SERPING1, SGPL1, SH2D1A, SH3BP2, SH3KBP1, SKIC2, SKIC3, SLC29A3, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC46A1, SLK, SLX4, SMARCAL1, SMARCD2, SNAI2, SNX10, SP110, SPAG1, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STXBP2, TAFAZZIN, TALDO1, TAP1, TAP2, TAPBP, TBCE, TBK1, TBX1, TBXAS1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFB3, TGFBR1, THBD, TICAM1, TINF2, TIRAP, TLR3, TLR7, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TPI1, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TRPS1, TSR2, TTC12, TTC7A, TYK2, UBE2T, UMPS, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VIPAS39, VPS13B, VPS33B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341

Super Painel

Super Painel for Primary Immunodeficiencies and Inflammatory Diseases

Based on whole-genome sequencing (WGS)

603 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABI3, ACD, ACP5, ACTB, ACTN1, ADA, ADA2, ADAM17, ADAR, AGR2, AICDA, AIRE, AK2, ALPI, ALPK1, ANGPT1, ANKZF1, AP1S3, AP3B1, AP3D1, APCS, APOA1, APOA2, APOC2, APOL1, ARHGEF1, ARPC1B, ARPC5, ASRGL1, ATAD3A, ATG4A, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, C17ORF62, C1QA, C1QB, C1QC, C1R, C1S, C2, C2ORF69, C3, C4A, C4B, C4BPA, C4BPB, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CBLB, CCBE1, CCR2, CD19, CD247, CD27, CD274, CD28, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CHUK, CIB1, CIITA, CLCN7, CLEC16A, CLEC7A, CLPB, COL7A1, COLEC11, COPA, COPG1, CORO1A, CPT2, CR2, CRACR2A, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTNNBL1, CTPS1, CTSC, CXCR2, CXCR4, CXORF36, CYBA, CYBB, CYBC1, DBF4, DBR1, DCLRE1A, DCLRE1B, DCLRE1C, DDX58, DEF6, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DPP9, DUT, EFL1, ELANE, ELF4, EP300, EPG5, ERBIN, ERCC4, ERCC6L2, ERN1, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FARP1, FAS, FASLG, FAT4, FAZ, FBRS, FCGR3A, FCHO1, FCN3, FERMT1, FERMT3, FGA, FLT3LG, FNIP1, FOXI3, FOXM1, FOXN1, FOXP3, FPR1, G6PC1, G6PC3, G6PD, GATA1, GATA2, GFI1, GIMAP6, GINS1, GINS4, GNAI2, GSN, GTF2H5, GTF3A, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HMOX1, HPS1, HPS4, HPS6, HS3ST6, HSPA1L, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IGFBP5, IGHM, IGKC, IGLL1, IKBKB, IKBKE, IKBKG, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1R1, IL1RN, IL21, IL21R, IL23R, IL27RA, IL2RA, IL2RB, IL2RG, IL36RN, IL6, IL6R, IL6ST, IL7, IL7R, INO80, IRAK1, IRAK4, IRF1, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, ITPKB, ITPR3, JAGN1, JAK1, JAK3, KARS, KDM6A, KMT2A, KMT2D, KNG1, KRAS, LACC1, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LRRC8A, LSM11, LY96, LYN, LYST, LYZM, MAD2L2, MAGT1, MALT1, MAN2B2, MAP3K14, MAPK8, MASP1, MASP2, MBL2, MCM10, MCM4, MCTS1, MECOM, MED13L, MEFV, MICA, MLPH, MMACHC, MOGS, MPEG1, MPO, MRTFA, MS4A1, MSH6, MSMO1, MSN, MTHFD1, MTPAP, MVK, MYD88, MYO5A, MYO5B, MYOF, MYSM1, NBAS, NBEAL2, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFATC1, NFATC2, NFE2L2, NFKB1, NFKB2, NFKBIA, NFKBIB, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NME1, NOD2, NOP10, NOS2, NPC1, NRAS, NSMCE3, NUDCD3, OAS1, OAS2, ODC1, ORAI1, OSMR, OSTM1, OTULIN, PALB2, PARN, PARP1, PAX1, PAX5, PDCD1, PEPD, PGM3, PI4KA, PIGA, PIK3CD, PIK3CG, PIK3R1, PLCG1, PLCG2, PLEKHM1, PLG, PMS2, PMVK, PNP, POLA1, POLD1, POLD2, POLD3, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, POU2AF1, PRF1, PRIM1, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSMG2, PSTPIP1, PTCRA, PTEN, PTPN2, PTPRC, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RASGRP2, RBCK1, RBM45, RECQL4, REL, RELA, RELB, RELN, RFWD3, RFX5, RFXANK, RFXAP, RHBDF2, RHOG, RHOH, RIPK1, RIPK3, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNF168, RNF31, RNU4ATAC, RNU7-1, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SASH3, SBDS, SEC61A1, SEMA3E, SERPING1, SGPL1, SH2B3, SH2D1A, SH3BP2, SH3KBP1, SHARPIN, SKIV2L, SLC13A4, SLC19A1, SLC29A3, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC7A7, SLCO2A1, SLX4, SMARCAL1, SMARCD2, SNORA31, SNX10, SOCS1, SP110, SPI1, SPINK5, SPPL2A, SRP19, SRP54, SRP72, SRPR, STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STING1, STK4, STN1, STX11, STXBP2, STXBP3, SYK, TAFAZZIN, TANK, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TBX21, TCF3, TCIRG1, TCN2, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TINF2, TIRAP, TLN1, TLR3, TLR4, TLR7, TLR8, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TNFSF9, TNIP1, TOP2B, TP53, TPP1, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TRPV3, TSPAN14, TTC37, TTC7A, TTR, TUBGCP3, TYK2, UBA1, UBE2T, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VAV1, VAV2, VPREB1, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZC3HC1, ZFP36, ZNF341, ZNF750, ZNFX1

NeoPainel

NeoPainel for Myeloid Neoplasms

Based on whole-exome sequencing (WES)

97 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BLM, BRAF, CALR, CBL, CBLB, CBLC, CCND2, CDKN2A, CDKN2B, CEBPA, CHEK2, CREBBP, CSF3R, CSNK1A1, CTCF, CUX1, DDX41, DHX15, DNMT3A, ELANE, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2, GNAS, GNB1, HRAS, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KDM6A, KIT, KMT2A, KMT2D, KRAS, LUC7L2, MPL, MSH2, MYC, MYD88, NF1, NOTCH1, NOTCH2, NPM1, NRAS, PAX5, PDGFRA, PHF6, PIGA, PML, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RB1, RBBP6, RUNX1, SAMD9, SAMD9L, SBDS, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRP72, SRSF2, STAG1, STAG2, STAT3, STAT5B, STK11, TERC, TERT, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, ZRSR2

Super Painel

Super Painel for Myeloid Neoplasms

Based on whole-genome sequencing (WGS)

97 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BLM, BRAF, CALR, CBL, CBLB, CBLC, CCND2, CDKN2A, CDKN2B, CEBPA, CHEK2, CREBBP, CSF3R, CSNK1A1, CTCF, CUX1, DDX41, DHX15, DNMT3A, ELANE, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2, GNAS, GNB1, HRAS, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KDM6A, KIT, KMT2A, KMT2D, KRAS, LUC7L2, MPL, MSH2, MYC, MYD88, NF1, NOTCH1, NOTCH2, NPM1, NRAS, PAX5, PDGFRA, PHF6, PIGA, PML, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RB1, RBBP6, RUNX1, SAMD9, SAMD9L, SBDS, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRP72, SRSF2, STAG1, STAG2, STAT3, STAT5B, STK11, TERC, TERT, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, ZRSR2

NeoPainel

NeoPainel for Periodic Fever Syndromes

Based on whole-exome sequencing (WES)

41 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ADA2, ADAM17, AP1S3, ASRGL1, CARD14, COPA, ELANE, FOXP3, HAVCR2, IL10, IL10RA, IL10RB, IL1RN, IL36RN, LACC1, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, OTULIN, PLCG2, PSMB8, PSMG2, PSTPIP1, RBCK1, RNF31, SH3BP2, SLC29A3, STING1, TNFAIP3, TNFRSF11A, TNFRSF1A, TRIM22, TTC7A, WAS, XIAP

Super Painel

Super Painel for Periodic Fever Syndromes

Based on whole-genome sequencing (WGS)

41 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ADA2, ADAM17, AP1S3, ASRGL1, CARD14, COPA, ELANE, FOXP3, HAVCR2, IL10, IL10RA, IL10RB, IL1RN, IL36RN, LACC1, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, OTULIN, PLCG2, PSMB8, PSMG2, PSTPIP1, RBCK1, RNF31, SH3BP2, SLC29A3, STING1, TNFAIP3, TNFRSF11A, TNFRSF1A, TRIM22, TTC7A, WAS, XIAP

NeoPainel

NeoPainel for Thrombophilias

Based on whole-exome sequencing (WES)

30 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ADAMTS13, CBS, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG, GGCX, HRG, LMAN1, MCFD2, MPL, PIGA, PLAT, PLG, PROC, PROCR, PROS1, PROZ, SERPINC1, SERPIND1, SERPINE1, SERPINF2, TFPI, THBD, VKORC1, VWF

Super Painel

Super Painel for Thrombophilias

Based on whole-genome sequencing (WGS)

30 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ADAMTS13, CBS, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG, GGCX, HRG, LMAN1, MCFD2, MPL, PIGA, PLAT, PLG, PROC, PROCR, PROS1, PROZ, SERPINC1, SERPIND1, SERPINE1, SERPINF2, TFPI, THBD, VKORC1, VWF

Reproductive Medicine

4 options available

NeoPainel

NeoPainel for Male Infertility

Based on whole-exome sequencing (WES)

138 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ACTL9, ADGRG2, AK7, AKAP4, AKAP9, ARMC2, ASZ1, AURKC, C14ORF39, CATIP, CATSPER1, CATSPER2, CATSPERT, CCDC146, CCDC34, CCDC62, CDC14A, CEP112, CEP131, CEP19, CFAP251, CFAP43, CFAP44, CFAP45, CFAP47, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DAZL, DDX25, DMC1, DMRT1, DNAH1, DNAH10, DNAH17, DNAH2, DNAH6, DNAH8, DNHD1, DPY19L2, DRC1, DZIP1, ELMO1, ESR2, FAM47C, FANCM, FBXO43, FKBP4, FKBP6, FSIP2, GALNTL5, GCNA, GGN, HENMT1, HIPK4, HORMAD1, HSF2, IFT74, KASH5, KLHL10, M1AP, MAGEE2, MCIDAS, MCM8, MCMDC2, MEI1, MEIOB, MMRN1, MNS1, MOV10L1, MSH4, MSH5, NANOS1, NR5A1, ODF4, PDHA2, PGK2, PIWIL2, PLCZ1, PMFBP1, PNLDC1, PPP2R3C, PRM1, PRM2, QRICH2, RABL2A, RBBP7, REC8, RNF212, ROS1, RPL10L, SCAPER, SEPTIN12, SEPTIN4, SHOC1, SLC26A8, SOHLH1, SOX8, SPAG17, SPATA16, SPATA3, SPEF2, SPINK2, STAG3, STK33, STRA8, SUN1, SUN5, SYCP2, SYCP3, TAF4B, TAF7L, TBCCD1, TDRD6, TDRD9, TDRKH, TEKT4, TERB1, TERB2, TEX11, TEX13B, TEX14, TEX15, TNP1, TSGA10, TTC21A, TTC29, TTLL9, USP26, USP9Y, WDR19, XRCC2, ZMYND15, ZPBP, ZSWIM7

Super Painel

Super Painel for Male Infertility

Based on whole-genome sequencing (WGS)

138 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ACTL9, ADGRG2, AK7, AKAP4, AKAP9, ARMC2, ASZ1, AURKC, C14ORF39, CATIP, CATSPER1, CATSPER2, CATSPERT, CCDC146, CCDC34, CCDC62, CDC14A, CEP112, CEP131, CEP19, CFAP251, CFAP43, CFAP44, CFAP45, CFAP47, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DAZL, DDX25, DMC1, DMRT1, DNAH1, DNAH10, DNAH17, DNAH2, DNAH6, DNAH8, DNHD1, DPY19L2, DRC1, DZIP1, ELMO1, ESR2, FAM47C, FANCM, FBXO43, FKBP4, FKBP6, FSIP2, GALNTL5, GCNA, GGN, HENMT1, HIPK4, HORMAD1, HSF2, IFT74, KASH5, KLHL10, M1AP, MAGEE2, MCIDAS, MCM8, MCMDC2, MEI1, MEIOB, MMRN1, MNS1, MOV10L1, MSH4, MSH5, NANOS1, NR5A1, ODF4, PDHA2, PGK2, PIWIL2, PLCZ1, PMFBP1, PNLDC1, PPP2R3C, PRM1, PRM2, QRICH2, RABL2A, RBBP7, REC8, RNF212, ROS1, RPL10L, SCAPER, SEPTIN12, SEPTIN4, SHOC1, SLC26A8, SOHLH1, SOX8, SPAG17, SPATA16, SPATA3, SPEF2, SPINK2, STAG3, STK33, STRA8, SUN1, SUN5, SYCP2, SYCP3, TAF4B, TAF7L, TBCCD1, TDRD6, TDRD9, TDRKH, TEKT4, TERB1, TERB2, TEX11, TEX13B, TEX14, TEX15, TNP1, TSGA10, TTC21A, TTC29, TTLL9, USP26, USP9Y, WDR19, XRCC2, ZMYND15, ZPBP, ZSWIM7

NeoPainel

NeoPainel Carrier Plus

Based on whole-exome sequencing (WES)

1059 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Whole-exome sequencing (WES), targeted analysis of 1,059 genes and dedicated tests for Fragile X and SMN1.

What is analyzed

Point variants, CNVs, structural variants, CGG expansion of FMR1 and copy number of exons 7 and 8 of SMN1.

Genes analyzed

AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACOX2, ACSF3, ACTA2, ACTC1, ACVRL1, ACY1, ADA, ADAMTS13, ADAMTS2, ADGRG1, ADGRV1, ADK, AGA, AGL, AGPAT2, AGPS, AGRN, AGXT, AHCY, AHI1, AICDA, AIPL1, AIRE, AK2, AKR1D1, AKT2, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG14, ALG2, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMACR, AMN, AMPD2, AMT, ANO10, ANTXR2, AP3B1, APC, APOA5, APOB, APOC2, APRT, AQP2, ARG1, ARL13B, ARL6, ARPC1B, ARSA, ARSB, ARX, ASCC3, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AUH, AVPR2, B2M, B9D1, B9D2, BAAT, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCS1L, BLM, BLNK, BLOC1S3, BLOC1S6, BMP1, BMPR1A, BRCA1, BRCA2, BRIP1, BSND, BTD, BTK, C19ORF12, C3, CA5A, CACNA1S, CAD, CALM1, CALM2, CALM3, CAPN3, CARD11, CARMIL2, CASP8, CASQ2, CASR, CAV3, CAVIN1, CBLIF, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD27, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD70, CD79A, CD79B, CD8A, CDCA7, CDCA8, CDH23, CEP104, CEP290, CERKL, CERS3, CFP, CFTR, CHAT, CHD8, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLRN1, CNGA1, CNGB1, CNGB3, CNNM2, CNTNAP2, COASY, COL13A1, COL1A1, COL1A2, COL3A1, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, CP, CPLANE1, CPOX, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CSF3R, CTC1, CTLA4, CTNS, CTPS1, CTSA, CTSD, CTSF, CTSK, CUBN, CUL7, CWC27, CXCR2, CXCR4, CYB5A, CYB5R3, CYBA, CYBB, CYBC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP4F22, CYP7B1, D2HGDH, DBT, DCAF17, DCLRE1C, DDB2, DDC, DES, DGAT1, DHCR7, DHDDS, DHFR, DLAT, DLD, DMD, DMP1, DNAJC12, DNAJC19, DNAJC21, DNMT3B, DOCK2, DOCK8, DOK7, DPAGT1, DPYD, DPYS, DSP, DTNBP1, DUOX2, DUOXA2, DYNC2H1, DYSF, ECHS1, EDA, EFEMP2, EFL1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF6, ELANE, ELP1, EMD, ENG, ENPP1, EPO, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F13A1, F13B, F2, F8, F9, FA2H, FAAP24, FAH, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FASLG, FBN1, FBP1, FBXL4, FECH, FERMT3, FGA, FGF23, FGFR3, FH, FHL1, FKBP10, FKRP, FKTN, FLAD1, FLNC, FMO3, FMR1, FOLR1, FOXA2, FOXE1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, FXYD2, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA1, GATA2, GATM, GBA1, GBE1, GCDH, GCH1, GCK, GCSH, GFI1, GFM1, GFPT1, GGCX, GH1, GHR, GHRHR, GJB2, GJB6, GLA, GLB1, GLDC, GLE1, GLI2, GLIS3, GLRA1, GLRB, GLUD1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOT2, GPHN, GPIHBP1, GRHPR, GRIP1, GSS, GUSB, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HAVCR2, HAX1, HBA1, HBA2, HBB, HCFC1, HEATR3, HELLS, HEXA, HEXB, HFE, HGSNAT, HIBCH, HINT1, HJV, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF4A, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HYAL1, HYCC1, HYLS1, HYOU1, IDH2, IDS, IDUA, IFNG, IFNGR1, IFNGR2, IFT140, IGHM, IGLL1, IGSF1, IKBKB, IL12B, IL12RB1, IL12RB2, IL18BP, IL23R, IL2RA, IL2RB, IL2RG, IL7R, IMPDH2, INO80, INPP5E, INS, INSR, IRAK1, IRAK4, IRF4, IRF8, IRS4, ITGB2, ITK, ITPA, ITPKB, IVD, IYD, JAGN1, JAK1, JAK3, KCNH2, KCNJ1, KCNJ11, KCNQ1, KCNQ2, KCNT1, KCTD7, KIF14, L1CAM, L2HGDH, LAMA2, LAMA3, LAMA5, LAMB2, LAMB3, LAMC2, LAMP2, LARS1, LAT, LCA5, LCK, LCP2, LCT, LDHA, LDLR, LDLRAP1, LEP, LHX3, LHX4, LIAS, LIFR, LIG4, LIPA, LIPN, LMBRD1, LMF1, LMNA, LOXHD1, LPL, LRAT, LRP2, LRP4, LRPPRC, LTBP4, LYN, LYST, MAGED2, MAGT1, MAK, MALT1, MAML2, MAMLD1, MAN2B1, MANBA, MAP3K14, MAT1A, MAX, MC2R, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MEN1, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MRAP, MSH2, MSH6, MTHFD1, MTHFR, MTM1, MTR, MTRR, MTTP, MUTYH, MVK, MYBPC3, MYD88, MYH11, MYH7, MYH9, MYL2, MYL3, MYO5B, MYO7A, MYO9A, MYSM1, NADK2, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NEUROG3, NF2, NFKB1, NGLY1, NHEJ1, NIPAL4, NKX2-1, NKX2-5, NNT, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NR1H4, NR5A1, NTN1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, ORAI1, OSTM1, OTC, OTOF, OTX2, OXCT1, P3H1, PAH, PALB2, PANK2, PAX1, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PCK1, PCSK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PDXK, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGM1, PGM3, PHEX, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIK3CD, PIK3R1, PKHD1, PKLR, PKP2, PLA2G6, PLAGL1, PLEC, PLEKHG5, PLN, PLOD2, PLP1, PLPBP, PMM2, PMS2, PNP, PNPLA1, PNPO, POLD1, POLD2, POLG, POLH, POMC, POMGNT1, POMT1, POMT2, POR, POU1F1, POU2AF1, POU3F4, PPIB, PPM1K, PPOX, PPT1, PRCD, PRDM5, PREPL, PRF1, PRKAG2, PRKCD, PRKDC, PRODH, PROP1, PSAP, PSAT1, PSPH, PTEN, PTF1A, PTPRC, PTS, PURA, PUS1, PYCR1, PYGL, PYGM, QDPR, RAB23, RAB27A, RAC2, RAG1, RAG2, RAPSN, RARS2, RASGRP1, RB1, RBCK1, RBM20, RC3H1, RD3, RDH12, RET, RFX5, RFXANK, RFXAP, RHOG, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROBO1, RORC, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPH3A, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPL8, RPLP0, RPS10, RPS11, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RS1, RYR1, RYR2, SACS, SAMHD1, SASH3, SBDS, SCN4A, SCN5A, SCNN1A, SCNN1B, SCNN1G, SCO2, SDCCAG8, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SELENON, SEMA7A, SEPSECS, SERAC1, SERPINA7, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SH3KBP1, SI, SKIC2, SKIC3, SLC12A1, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A32, SLC25A36, SLC26A2, SLC26A3, SLC26A4, SLC26A7, SLC27A4, SLC2A1, SLC2A10, SLC2A2, SLC30A10, SLC31A1, SLC34A3, SLC35A2, SLC35A3, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC3A1, SLC46A1, SLC4A11, SLC51A, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC5A7, SLC6A19, SLC6A5, SLC6A6, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMAD3, SMAD4, SMARCAL1, SMN1, SMPD1, SNAP25, SORD, SOX3, SP110, SPATA7, SPG11, SPG21, SPI1, SPPL2A, SPR, SRP54, SRP72, STAR, STAT1, STK11, STK4, STX11, STXBP2, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYNE4, SYT2, TAFAZZIN, TANGO2, TAP1, TAP2, TAPBP, TAT, TBL1X, TBX19, TBX21, TCF3, TCIRG1, TCN2, TCTN1, TCTN2, TCTN3, TECPR2, TEFM, TF, TFRC, TG, TGFBR1, TGFBR2, TGM1, TH, THAP11, THRA, TIRAP, TJP2, TK2, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM43, TMEM67, TMEM70, TNFSF11, TNNC1, TNNI3, TNNT2, TNXB, TOP2B, TOR1AIP1, TP53, TPK1, TPM1, TPMT, TPO, TPP1, TRAPPC11, TRDN, TRH, TRHR, TRIM32, TRMU, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSR2, TTC7A, TTC8, TTN, TTPA, TTR, TUBB1, TULP1, TYK2, TYMP, TYR, UCP2, UGT1A1, UMPS, UNC13A, UNC13D, UNG, UROD, UROS, USH1C, USH1G, USH2A, USP53, VAMP1, VDR, VHL, VKORC1, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WIPF1, WNT1, WRN, WT1, XIAP, XPA, XPC, ZAP70, ZBTB24, ZFP57, ZFYVE19, ZNF143, ZNF469, ZNF808, ZNRF3

NeoPainel

NeoPainel Carrier Plus Duo

Based on whole-exome sequencing (WES)

1059 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Two Plus protocols: whole-exome sequencing (WES), targeted analysis of 1,059 genes, dedicated tests and joint analysis of the couple.

What is analyzed

Individual results, identification of relevant genes in the couple and assessment of combined risk according to inheritance pattern.

Genes analyzed

AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACOX2, ACSF3, ACTA2, ACTC1, ACVRL1, ACY1, ADA, ADAMTS13, ADAMTS2, ADGRG1, ADGRV1, ADK, AGA, AGL, AGPAT2, AGPS, AGRN, AGXT, AHCY, AHI1, AICDA, AIPL1, AIRE, AK2, AKR1D1, AKT2, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG14, ALG2, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMACR, AMN, AMPD2, AMT, ANO10, ANTXR2, AP3B1, APC, APOA5, APOB, APOC2, APRT, AQP2, ARG1, ARL13B, ARL6, ARPC1B, ARSA, ARSB, ARX, ASCC3, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AUH, AVPR2, B2M, B9D1, B9D2, BAAT, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCS1L, BLM, BLNK, BLOC1S3, BLOC1S6, BMP1, BMPR1A, BRCA1, BRCA2, BRIP1, BSND, BTD, BTK, C19ORF12, C3, CA5A, CACNA1S, CAD, CALM1, CALM2, CALM3, CAPN3, CARD11, CARMIL2, CASP8, CASQ2, CASR, CAV3, CAVIN1, CBLIF, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD27, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD70, CD79A, CD79B, CD8A, CDCA7, CDCA8, CDH23, CEP104, CEP290, CERKL, CERS3, CFP, CFTR, CHAT, CHD8, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLRN1, CNGA1, CNGB1, CNGB3, CNNM2, CNTNAP2, COASY, COL13A1, COL1A1, COL1A2, COL3A1, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, CP, CPLANE1, CPOX, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CSF3R, CTC1, CTLA4, CTNS, CTPS1, CTSA, CTSD, CTSF, CTSK, CUBN, CUL7, CWC27, CXCR2, CXCR4, CYB5A, CYB5R3, CYBA, CYBB, CYBC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP4F22, CYP7B1, D2HGDH, DBT, DCAF17, DCLRE1C, DDB2, DDC, DES, DGAT1, DHCR7, DHDDS, DHFR, DLAT, DLD, DMD, DMP1, DNAJC12, DNAJC19, DNAJC21, DNMT3B, DOCK2, DOCK8, DOK7, DPAGT1, DPYD, DPYS, DSP, DTNBP1, DUOX2, DUOXA2, DYNC2H1, DYSF, ECHS1, EDA, EFEMP2, EFL1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF6, ELANE, ELP1, EMD, ENG, ENPP1, EPO, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F13A1, F13B, F2, F8, F9, FA2H, FAAP24, FAH, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FASLG, FBN1, FBP1, FBXL4, FECH, FERMT3, FGA, FGF23, FGFR3, FH, FHL1, FKBP10, FKRP, FKTN, FLAD1, FLNC, FMO3, FMR1, FOLR1, FOXA2, FOXE1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, FXYD2, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA1, GATA2, GATM, GBA1, GBE1, GCDH, GCH1, GCK, GCSH, GFI1, GFM1, GFPT1, GGCX, GH1, GHR, GHRHR, GJB2, GJB6, GLA, GLB1, GLDC, GLE1, GLI2, GLIS3, GLRA1, GLRB, GLUD1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOT2, GPHN, GPIHBP1, GRHPR, GRIP1, GSS, GUSB, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HAVCR2, HAX1, HBA1, HBA2, HBB, HCFC1, HEATR3, HELLS, HEXA, HEXB, HFE, HGSNAT, HIBCH, HINT1, HJV, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF4A, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HYAL1, HYCC1, HYLS1, HYOU1, IDH2, IDS, IDUA, IFNG, IFNGR1, IFNGR2, IFT140, IGHM, IGLL1, IGSF1, IKBKB, IL12B, IL12RB1, IL12RB2, IL18BP, IL23R, IL2RA, IL2RB, IL2RG, IL7R, IMPDH2, INO80, INPP5E, INS, INSR, IRAK1, IRAK4, IRF4, IRF8, IRS4, ITGB2, ITK, ITPA, ITPKB, IVD, IYD, JAGN1, JAK1, JAK3, KCNH2, KCNJ1, KCNJ11, KCNQ1, KCNQ2, KCNT1, KCTD7, KIF14, L1CAM, L2HGDH, LAMA2, LAMA3, LAMA5, LAMB2, LAMB3, LAMC2, LAMP2, LARS1, LAT, LCA5, LCK, LCP2, LCT, LDHA, LDLR, LDLRAP1, LEP, LHX3, LHX4, LIAS, LIFR, LIG4, LIPA, LIPN, LMBRD1, LMF1, LMNA, LOXHD1, LPL, LRAT, LRP2, LRP4, LRPPRC, LTBP4, LYN, LYST, MAGED2, MAGT1, MAK, MALT1, MAML2, MAMLD1, MAN2B1, MANBA, MAP3K14, MAT1A, MAX, MC2R, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MEN1, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MRAP, MSH2, MSH6, MTHFD1, MTHFR, MTM1, MTR, MTRR, MTTP, MUTYH, MVK, MYBPC3, MYD88, MYH11, MYH7, MYH9, MYL2, MYL3, MYO5B, MYO7A, MYO9A, MYSM1, NADK2, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NEUROG3, NF2, NFKB1, NGLY1, NHEJ1, NIPAL4, NKX2-1, NKX2-5, NNT, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NR1H4, NR5A1, NTN1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, ORAI1, OSTM1, OTC, OTOF, OTX2, OXCT1, P3H1, PAH, PALB2, PANK2, PAX1, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PCK1, PCSK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PDXK, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGM1, PGM3, PHEX, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIK3CD, PIK3R1, PKHD1, PKLR, PKP2, PLA2G6, PLAGL1, PLEC, PLEKHG5, PLN, PLOD2, PLP1, PLPBP, PMM2, PMS2, PNP, PNPLA1, PNPO, POLD1, POLD2, POLG, POLH, POMC, POMGNT1, POMT1, POMT2, POR, POU1F1, POU2AF1, POU3F4, PPIB, PPM1K, PPOX, PPT1, PRCD, PRDM5, PREPL, PRF1, PRKAG2, PRKCD, PRKDC, PRODH, PROP1, PSAP, PSAT1, PSPH, PTEN, PTF1A, PTPRC, PTS, PURA, PUS1, PYCR1, PYGL, PYGM, QDPR, RAB23, RAB27A, RAC2, RAG1, RAG2, RAPSN, RARS2, RASGRP1, RB1, RBCK1, RBM20, RC3H1, RD3, RDH12, RET, RFX5, RFXANK, RFXAP, RHOG, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROBO1, RORC, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPH3A, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPL8, RPLP0, RPS10, RPS11, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RS1, RYR1, RYR2, SACS, SAMHD1, SASH3, SBDS, SCN4A, SCN5A, SCNN1A, SCNN1B, SCNN1G, SCO2, SDCCAG8, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SELENON, SEMA7A, SEPSECS, SERAC1, SERPINA7, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SH3KBP1, SI, SKIC2, SKIC3, SLC12A1, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A32, SLC25A36, SLC26A2, SLC26A3, SLC26A4, SLC26A7, SLC27A4, SLC2A1, SLC2A10, SLC2A2, SLC30A10, SLC31A1, SLC34A3, SLC35A2, SLC35A3, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC3A1, SLC46A1, SLC4A11, SLC51A, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC5A7, SLC6A19, SLC6A5, SLC6A6, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMAD3, SMAD4, SMARCAL1, SMN1, SMPD1, SNAP25, SORD, SOX3, SP110, SPATA7, SPG11, SPG21, SPI1, SPPL2A, SPR, SRP54, SRP72, STAR, STAT1, STK11, STK4, STX11, STXBP2, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYNE4, SYT2, TAFAZZIN, TANGO2, TAP1, TAP2, TAPBP, TAT, TBL1X, TBX19, TBX21, TCF3, TCIRG1, TCN2, TCTN1, TCTN2, TCTN3, TECPR2, TEFM, TF, TFRC, TG, TGFBR1, TGFBR2, TGM1, TH, THAP11, THRA, TIRAP, TJP2, TK2, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM43, TMEM67, TMEM70, TNFSF11, TNNC1, TNNI3, TNNT2, TNXB, TOP2B, TOR1AIP1, TP53, TPK1, TPM1, TPMT, TPO, TPP1, TRAPPC11, TRDN, TRH, TRHR, TRIM32, TRMU, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSR2, TTC7A, TTC8, TTN, TTPA, TTR, TUBB1, TULP1, TYK2, TYMP, TYR, UCP2, UGT1A1, UMPS, UNC13A, UNC13D, UNG, UROD, UROS, USH1C, USH1G, USH2A, USP53, VAMP1, VDR, VHL, VKORC1, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WIPF1, WNT1, WRN, WT1, XIAP, XPA, XPC, ZAP70, ZBTB24, ZFP57, ZFYVE19, ZNF143, ZNF469, ZNF808, ZNRF3

Nephrology

2 options available

NeoPainel

NeoPainel for Nephrotic Syndrome

Based on whole-exome sequencing (WES)

68 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ACTN4, ADGRE1, APOL1, ARHGAP24, ARHGDIA, AVIL, CD2AP, CFH, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, DAAM2, DGKE, EMP2, FAT1, FN1, GON7, IFIH1, IL36G, INF2, ITGA3, KANK1, KANK2, KIRREL1, LAGE3, LAMA5, LAMB2, LMX1B, MAFB, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OSGEP, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SGPL1, SLC17A5, SMARCAL1, TBC1D8B, TP53RK, TPRKB, TRIM8, TRPC6, TTC21B, WDR4, WDR73, WNK4, WT1, XPO5, YRDC

Super Painel

Super Painel for Nephrotic Syndrome

Based on whole-genome sequencing (WGS)

68 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ACTN4, ADGRE1, APOL1, ARHGAP24, ARHGDIA, AVIL, CD2AP, CFH, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, DAAM2, DGKE, EMP2, FAT1, FN1, GON7, IFIH1, IL36G, INF2, ITGA3, KANK1, KANK2, KIRREL1, LAGE3, LAMA5, LAMB2, LMX1B, MAFB, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OSGEP, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SGPL1, SLC17A5, SMARCAL1, TBC1D8B, TP53RK, TPRKB, TRIM8, TRPC6, TTC21B, WDR4, WDR73, WNK4, WT1, XPO5, YRDC

Neurology

20 options available

NeoPainel

NeoPainel for Dementias and Parkinson Disease

Based on whole-exome sequencing (WES)

106 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

A2M, AAAS, ABCD1, ACE, ADH1C, APOE, APP, ARSA, ATN1, ATP13A2, ATP1A3, ATP6AP2, ATP7B, ATXN2, ATXN3, C19ORF12, CHCHD10, CHCHD2, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC5, DNAJC6, DNMT1, EIF4G1, EPM2A, FBXO7, FTL, FUS, GALC, GBA1, GCH1, GFAP, GIGYF2, GLA, GLUD2, GRN, HEXA, HNRNPA2B1, HTRA1, HTRA2, HTT, ITM2B, JPH3, LMNB1, LRRK2, LYST, MAPT, MPO, NHLRC1, NOTCH3, NPC1, NPC2, NR4A2, OPA3, OPTN, PANK2, PARK7, PINK1, PLA2G6, PNKD, POLG, PPT1, PRKN, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, PTRHD1, RAB39B, SERPINI1, SGCE, SLC2A1, SLC30A10, SLC39A14, SLC41A1, SLC6A3, SNCA, SNCAIP, SNCB, SOD1, SORL1, SPG11, SPR, SQSTM1, SYNJ1, TAF1, TARDBP, TBK1, TBP, THAP1, TOR1A, TREM2, TUBB4A, TYROBP, UBQLN2, UCHL1, VAPB, VCP, VPS13A, VPS13C, VPS35, WDR45

Super Painel

Super Painel for Dementias and Parkinson Disease

Based on whole-genome sequencing (WGS)

106 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

A2M, AAAS, ABCD1, ACE, ADH1C, APOE, APP, ARSA, ATN1, ATP13A2, ATP1A3, ATP6AP2, ATP7B, ATXN2, ATXN3, C19ORF12, CHCHD10, CHCHD2, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC5, DNAJC6, DNMT1, EIF4G1, EPM2A, FBXO7, FTL, FUS, GALC, GBA1, GCH1, GFAP, GIGYF2, GLA, GLUD2, GRN, HEXA, HNRNPA2B1, HTRA1, HTRA2, HTT, ITM2B, JPH3, LMNB1, LRRK2, LYST, MAPT, MPO, NHLRC1, NOTCH3, NPC1, NPC2, NR4A2, OPA3, OPTN, PANK2, PARK7, PINK1, PLA2G6, PNKD, POLG, PPT1, PRKN, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, PTRHD1, RAB39B, SERPINI1, SGCE, SLC2A1, SLC30A10, SLC39A14, SLC41A1, SLC6A3, SNCA, SNCAIP, SNCB, SOD1, SORL1, SPG11, SPR, SQSTM1, SYNJ1, TAF1, TARDBP, TBK1, TBP, THAP1, TOR1A, TREM2, TUBB4A, TYROBP, UBQLN2, UCHL1, VAPB, VCP, VPS13A, VPS13C, VPS35, WDR45

NeoPainel

NeoPainel for Dystonias

Based on whole-exome sequencing (WES)

180 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ACTB, ADAR, ADCY5, AFG3L2, AIFM1, ALDH5A1, ANO3, AP1S2, APTX, ARG1, ARSA, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, BCAP31, BCS1L, C19ORF12, CACNA1A, CACNA1B, CACNA1G, CACNB4, CHMP2B, CIZ1, COL6A3, COX10, COX15, CSTB, CYP27A1, DBH, DCAF17, DCTN1, DDC, DHFR, DLAT, DLD, DNAJC12, DRD2, DRD5, EARS2, ERCC6, ETHE1, FA2H, FASTKD2, FBXO7, FITM2, FOLR1, FOXP2, FOXRED1, FTL, GAMT, GCDH, GCH1, GFAP, GLRA1, GLRB, GNAL, GNAO1, HEXA, HIBCH, HPCA, HPRT1, HTRA2, HTT, IFIH1, IVD, KCNA1, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCTD17, KMT2B, L2HGDH, LRPPRC, MAOA, MAT1A, MCOLN1, MECR, MMADHC, MMUT, MPV17, MR1, MRE11, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NPC2, PAH, PANK2, PARK7, PCBD1, PCCA, PCCB, PCNA, PDE10A, PDGFB, PDHA1, PDHB, PDHX, PDP1, PDX1, PINK1, PITX3, PLA2G6, PLP1, PNKD, POLG, PRKN, PRKRA, PRRT2, PSEN1, PTEN, PTS, QDPR, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN8A, SCN9A, SCP2, SDHA, SDHAF1, SGCE, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A1, SLC25A19, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A3, SLC6A5, SPG11, SPG7, SPR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TAF1, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TREM2, TREX1, TUBA1A, TUBB4A, TWNK, UBTF, VAC14, VPS13A, VPS13D, WDR45, XPR1, YY1

Super Painel

Super Painel for Dystonias

Based on whole-genome sequencing (WGS)

180 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ACTB, ADAR, ADCY5, AFG3L2, AIFM1, ALDH5A1, ANO3, AP1S2, APTX, ARG1, ARSA, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, BCAP31, BCS1L, C19ORF12, CACNA1A, CACNA1B, CACNA1G, CACNB4, CHMP2B, CIZ1, COL6A3, COX10, COX15, CSTB, CYP27A1, DBH, DCAF17, DCTN1, DDC, DHFR, DLAT, DLD, DNAJC12, DRD2, DRD5, EARS2, ERCC6, ETHE1, FA2H, FASTKD2, FBXO7, FITM2, FOLR1, FOXP2, FOXRED1, FTL, GAMT, GCDH, GCH1, GFAP, GLRA1, GLRB, GNAL, GNAO1, HEXA, HIBCH, HPCA, HPRT1, HTRA2, HTT, IFIH1, IVD, KCNA1, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCTD17, KMT2B, L2HGDH, LRPPRC, MAOA, MAT1A, MCOLN1, MECR, MMADHC, MMUT, MPV17, MR1, MRE11, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NPC2, PAH, PANK2, PARK7, PCBD1, PCCA, PCCB, PCNA, PDE10A, PDGFB, PDHA1, PDHB, PDHX, PDP1, PDX1, PINK1, PITX3, PLA2G6, PLP1, PNKD, POLG, PRKN, PRKRA, PRRT2, PSEN1, PTEN, PTS, QDPR, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN8A, SCN9A, SCP2, SDHA, SDHAF1, SGCE, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A1, SLC25A19, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A3, SLC6A5, SPG11, SPG7, SPR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TAF1, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TREM2, TREX1, TUBA1A, TUBB4A, TWNK, UBTF, VAC14, VPS13A, VPS13D, WDR45, XPR1, YY1

NeoPainel

NeoPainel for Muscular Dystrophies, Myopathies and Myasthenia

Based on whole-exome sequencing (WES)

182 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCC9, ACHE, ACTA1, ACTG2, ACTN2, ADSS1, AGRN, ALG14, ALG2, ALPK3, ANO5, ANXA11, AP2A2, APOO, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAP2, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CLCN1, CLHC1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRPPA, CRYAB, DAG1, DES, DLGAP2, DMD, DNAJB4, DNAJB6, DNAJB7, DNM2, DNMT3A, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FAM111B, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GFER, GFPT1, GMPPB, GNE, GYG1, GYS1, HACD1, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB6, HSPB8, IGHMBP2, ISCU, ITGA7, KBTBD13, KCNJ2, KIF5B, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MAGEL2, MAP3K20, MATR3, MCM3AP, MCOLN1, MEGF10, MFF, MICU1, MLIP, MSTO1, MTM1, MUSK, MYBPC1, MYF6, MYH2, MYH7, MYL1, MYL2, MYO15B, MYO18B, MYOD1, MYOT, MYPN, NEB, NRXN1, OPA1, ORAI1, PABPN1, PAX7, PHKA1, PLEC, PNPLA2, PNPLA8, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP2R3C, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RDH11, RFC4, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SMPX, SOX8, SPEG, SPTAN1, SPTBN4, SQSTM1, STAC3, STIM1, SVIL, TARDBP, TCAP, TGFB1, TIA1, TK2, TNNC2, TNNI1, TNNT1, TNNT3, TPM2, TPM3, TRAPPC2L, TRIM32, TRIP4, TTN, TUBA4A, UNC45B, VCP, VMA21, YARS2

Super Painel

Super Painel for Muscular Dystrophies, Myopathies and Myasthenia

Based on whole-genome sequencing (WGS)

182 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCC9, ACHE, ACTA1, ACTG2, ACTN2, ADSS1, AGRN, ALG14, ALG2, ALPK3, ANO5, ANXA11, AP2A2, APOO, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAP2, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CLCN1, CLHC1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRPPA, CRYAB, DAG1, DES, DLGAP2, DMD, DNAJB4, DNAJB6, DNAJB7, DNM2, DNMT3A, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FAM111B, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GFER, GFPT1, GMPPB, GNE, GYG1, GYS1, HACD1, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB6, HSPB8, IGHMBP2, ISCU, ITGA7, KBTBD13, KCNJ2, KIF5B, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MAGEL2, MAP3K20, MATR3, MCM3AP, MCOLN1, MEGF10, MFF, MICU1, MLIP, MSTO1, MTM1, MUSK, MYBPC1, MYF6, MYH2, MYH7, MYL1, MYL2, MYO15B, MYO18B, MYOD1, MYOT, MYPN, NEB, NRXN1, OPA1, ORAI1, PABPN1, PAX7, PHKA1, PLEC, PNPLA2, PNPLA8, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP2R3C, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RDH11, RFC4, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SMPX, SOX8, SPEG, SPTAN1, SPTBN4, SQSTM1, STAC3, STIM1, SVIL, TARDBP, TCAP, TGFB1, TIA1, TK2, TNNC2, TNNI1, TNNT1, TNNT3, TPM2, TPM3, TRAPPC2L, TRIM32, TRIP4, TTN, TUBA4A, UNC45B, VCP, VMA21, YARS2

NeoPainel

NeoPainel for Alzheimer Disease

Based on whole-exome sequencing (WES)

4 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

APOE, APP, PSEN1, PSEN2

Super Painel

Super Painel for Alzheimer Disease

Based on whole-genome sequencing (WGS)

4 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

APOE, APP, PSEN1, PSEN2

NeoPainel

NeoPainel for Mitochondrial Diseases (Nuclear and Mitochondrial DNA)

Based on whole-exome sequencing (WES)

371 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS2, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ADAR, AFG3L2, AGK, AIFM1, AK2, ALDH3A2, AMT, APTX, ATP5F1A, ATP5F1D, ATP5F1E, ATP7A, ATP7B, ATPAF2, AUH, BAG3, BCS1L, BOLA3, BTD, C19ORF12, C1QBP, CA5A, CARS2, CEP89, CHAT, CHCHD10, CHKB, CLPB, CLPP, COA3, COA5, COA6, COA7, COA8, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX5A, COX6B1, COX7B, COX8A, COXFA4, CPS1, CPT1A, CYC1, CYCS, D2HGDH, DARS2, DDC, DES, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GAMT, GARS1, GATB, GATC, GATM, GCDH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, HTRA2, IARS1, IARS2, IBA57, IDH2, IDH3B, IFIH1, ISCA1, ISCA2, ISCU, KARS1, L2HGDH, LAMP2, LARS2, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MOCS1, MPC1, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFD1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MTRFR, MT-RNR1, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TV, MT-TW, MT-TY, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NNT, NR2F1, NSUN3, NUBPL, NUP62, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARS2, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PINK1, PITRM1, PMPCA, PMPCB, PNKD, PNPLA8, PNPT1, POLG, POLG2, POP1, PPA2, PPOX, PSAP, PTCD3, PUS1, QRSL1, RANBP2, RARS1, RARS2, REEP1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RRM2B, RTN4IP1, SACS, SAMHD1, SARS2, SCN1A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC39A8, SLC52A2, SLC52A3, SLC6A8, SPAST, SPG7, STAT2, STXBP1, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TAFAZZIN, TANGO2, TARS2, TFAM, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TOP3A, TPK1, TREX1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, WDR45, WFS1, XPNPEP3, YARS2, YME1L1

Super Painel

Super Painel for Mitochondrial Diseases (Nuclear and Mitochondrial DNA)

Based on whole-genome sequencing (WGS)

371 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS2, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ADAR, AFG3L2, AGK, AIFM1, AK2, ALDH3A2, AMT, APTX, ATP5F1A, ATP5F1D, ATP5F1E, ATP7A, ATP7B, ATPAF2, AUH, BAG3, BCS1L, BOLA3, BTD, C19ORF12, C1QBP, CA5A, CARS2, CEP89, CHAT, CHCHD10, CHKB, CLPB, CLPP, COA3, COA5, COA6, COA7, COA8, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX5A, COX6B1, COX7B, COX8A, COXFA4, CPS1, CPT1A, CYC1, CYCS, D2HGDH, DARS2, DDC, DES, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GAMT, GARS1, GATB, GATC, GATM, GCDH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, HTRA2, IARS1, IARS2, IBA57, IDH2, IDH3B, IFIH1, ISCA1, ISCA2, ISCU, KARS1, L2HGDH, LAMP2, LARS2, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MOCS1, MPC1, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFD1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MTRFR, MT-RNR1, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TV, MT-TW, MT-TY, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NNT, NR2F1, NSUN3, NUBPL, NUP62, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARS2, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PINK1, PITRM1, PMPCA, PMPCB, PNKD, PNPLA8, PNPT1, POLG, POLG2, POP1, PPA2, PPOX, PSAP, PTCD3, PUS1, QRSL1, RANBP2, RARS1, RARS2, REEP1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RRM2B, RTN4IP1, SACS, SAMHD1, SARS2, SCN1A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC39A8, SLC52A2, SLC52A3, SLC6A8, SPAST, SPG7, STAT2, STXBP1, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TAFAZZIN, TANGO2, TARS2, TFAM, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TOP3A, TPK1, TREX1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, WDR45, WFS1, XPNPEP3, YARS2, YME1L1

NeoPainel

NeoPainel for Epilepsy

Based on whole-exome sequencing (WES)

740 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS1, AARS2, ABAT, ACER3, ACOX1, ACTL6B, ACY1, ADAM22, ADAR, ADAT3, ADGRG1, ADGRV1, ADNP, ADPRS, ADRA2B, ADSL, AFF3, AFG2A, AGO1, AIMP1, AIMP2, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMPD2, AMT, ANKRD11, AP1G1, AP2M1, AP3B2, ARF1, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASH1L, ASNS, ASPA, ATAD1, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATP8A2, ATRX, BCKDHA, BCKDHB, BCKDK, BCORL1, BCS1L, BLTP1, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12ORF57, C2ORF69, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CAMK2G, CARS2, CASK, CASR, CBL, CC2D2A, CCDC88A, CCDC88C, CCND2, CDK19, CDK5, CDK8, CDKL5, CERS1, CHD2, CHD5, CIC, CILK1, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CPA6, CPLX1, CREBBP, CRELD1, CRH, CRPPA, CSNK1G1, CSNK2A1, CSNK2B, CSTB, CTNNA2, CTNNB1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX30, DIAPH1, DLAT, DMBX1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EMC1, EML1, EMX2, EPG5, EPM2A, ETHE1, EXOSC3, EXT2, FAR1, FARS2, FASN, FASTKD2, FBXL4, FBXO11, FCSK, FDFT1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATAD2B, GATM, GBA1, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HEXA, HEXB, HLCS, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPRT1, HRAS, HSD17B4, HSPD1, HTRA2, IDH2, IDH3A, IER3IP1, IFIH1, IKBKG, INO80, IQSEC2, IRF2BPL, ITPA, JMJD1C, KANSL1, KARS1, KAT5, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, KDM5C, KIF1A, KIF2A, KIF5A, KIF5C, KIFBP, KMT2E, KMT5B, KPNA7, KPTN, KRAS, LAMB1, LAMC3, LARGE1, LGI1, LIAS, LIPT2, LMBRD2, LMNB2, LNPK, LSS, LYST, MACF1, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MAST1, MAST3, MATN4, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MICAL1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MTHFR, MTOR, MTR, NACC1, NAGA, NAGLU, NALCN, NARS1, NARS2, NBEA, NCDN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NEXMIF, NF1, NGLY1, NHLRC1, NHLRC2, NID1, NPC1, NPC2, NPRL2, NPRL3, NR4A2, NRAS, NRXN1, NSD1, NSDHL, NTRK2, NUBPL, NUS1, OCLN, OPHN1, OSGEP, OTUD6B, OTX2, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCLO, PDE2A, PDHA1, PDHX, PDP1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHACTR1, PHGDH, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIK3AP1, PIK3C2B, PIK3CA, PIK3R2, PLAA, PLCB1, PLPBP, PMM2, PNKD, PNKP, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCH1, PTEN, PTF1A, PTPN23, PTS, PURA, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC3, RAI1, RALA, RANBP2, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, ROGDI, RORA, RORB, RPH3A, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SEC24D, SEPSECS, SERPINI1, SETBP1, SETD1B, SETD2, SETD5, SGCE, SGSH, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC45A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNIP1, SNX27, SPR, SPTAN1, SPTBN1, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRADA, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TANGO2, TBC1D20, TBC1D24, TBCD, TBCK, TBL1XR1, TCEAL1, TCF4, TELO2, TFE3, TGIF1, TIAM1, TIMM50, TK2, TMEM70, TMTC3, TNK2, TNPO2, TPK1, TPP1, TRAF7, TRAK1, TRAPPC12, TRAPPC6B, TREX1, TRIM8, TRIO, TRIP13, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TXNRD1, UBA5, UBE2A, UBE3A, UBR7, UBTF, UFC1, UFM1, UNC79, UNC80, USP7, VAMP2, VARS1, VLDLR, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WWOX, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZNF142, ZSWIM6

Super Painel

Super Painel for Epilepsy

Based on whole-genome sequencing (WGS)

740 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS1, AARS2, ABAT, ACER3, ACOX1, ACTL6B, ACY1, ADAM22, ADAR, ADAT3, ADGRG1, ADGRV1, ADNP, ADPRS, ADRA2B, ADSL, AFF3, AFG2A, AGO1, AIMP1, AIMP2, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMPD2, AMT, ANKRD11, AP1G1, AP2M1, AP3B2, ARF1, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASH1L, ASNS, ASPA, ATAD1, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATP8A2, ATRX, BCKDHA, BCKDHB, BCKDK, BCORL1, BCS1L, BLTP1, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12ORF57, C2ORF69, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CAMK2G, CARS2, CASK, CASR, CBL, CC2D2A, CCDC88A, CCDC88C, CCND2, CDK19, CDK5, CDK8, CDKL5, CERS1, CHD2, CHD5, CIC, CILK1, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CPA6, CPLX1, CREBBP, CRELD1, CRH, CRPPA, CSNK1G1, CSNK2A1, CSNK2B, CSTB, CTNNA2, CTNNB1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX30, DIAPH1, DLAT, DMBX1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EMC1, EML1, EMX2, EPG5, EPM2A, ETHE1, EXOSC3, EXT2, FAR1, FARS2, FASN, FASTKD2, FBXL4, FBXO11, FCSK, FDFT1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATAD2B, GATM, GBA1, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HEXA, HEXB, HLCS, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPRT1, HRAS, HSD17B4, HSPD1, HTRA2, IDH2, IDH3A, IER3IP1, IFIH1, IKBKG, INO80, IQSEC2, IRF2BPL, ITPA, JMJD1C, KANSL1, KARS1, KAT5, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, KDM5C, KIF1A, KIF2A, KIF5A, KIF5C, KIFBP, KMT2E, KMT5B, KPNA7, KPTN, KRAS, LAMB1, LAMC3, LARGE1, LGI1, LIAS, LIPT2, LMBRD2, LMNB2, LNPK, LSS, LYST, MACF1, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MAST1, MAST3, MATN4, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MICAL1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MTHFR, MTOR, MTR, NACC1, NAGA, NAGLU, NALCN, NARS1, NARS2, NBEA, NCDN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NEXMIF, NF1, NGLY1, NHLRC1, NHLRC2, NID1, NPC1, NPC2, NPRL2, NPRL3, NR4A2, NRAS, NRXN1, NSD1, NSDHL, NTRK2, NUBPL, NUS1, OCLN, OPHN1, OSGEP, OTUD6B, OTX2, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCLO, PDE2A, PDHA1, PDHX, PDP1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHACTR1, PHGDH, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIK3AP1, PIK3C2B, PIK3CA, PIK3R2, PLAA, PLCB1, PLPBP, PMM2, PNKD, PNKP, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCH1, PTEN, PTF1A, PTPN23, PTS, PURA, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC3, RAI1, RALA, RANBP2, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, ROGDI, RORA, RORB, RPH3A, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SEC24D, SEPSECS, SERPINI1, SETBP1, SETD1B, SETD2, SETD5, SGCE, SGSH, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC45A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNIP1, SNX27, SPR, SPTAN1, SPTBN1, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRADA, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TANGO2, TBC1D20, TBC1D24, TBCD, TBCK, TBL1XR1, TCEAL1, TCF4, TELO2, TFE3, TGIF1, TIAM1, TIMM50, TK2, TMEM70, TMTC3, TNK2, TNPO2, TPK1, TPP1, TRAF7, TRAK1, TRAPPC12, TRAPPC6B, TREX1, TRIM8, TRIO, TRIP13, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TXNRD1, UBA5, UBE2A, UBE3A, UBR7, UBTF, UFC1, UFM1, UNC79, UNC80, USP7, VAMP2, VARS1, VLDLR, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WWOX, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZNF142, ZSWIM6

NeoPainel

NeoPainel for Leukodystrophies

Based on whole-exome sequencing (WES)

171 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS2, ABCD1, ACBD5, ACOX1, ADAR, ADGRG1, AIMP1, ALDH3A2, ARSA, ARX, ASPA, ATP7A, ATP7B, ATPAF2, BCAP31, BCS1L, BOLA3, CIC, CLCN2, COL4A1, COQ2, COQ8A, COQ9, COX10, COX15, CSF1R, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS1, DARS2, DCX, DGUOK, DPYD, EARS2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC2, ERCC3, ERCC6, ERCC8, ETFDH, FA2H, FLVCR2, FOLR1, FUCA1, GALC, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, GLB1, GM2A, GTF2H5, HEPACAM, HEXA, HEXB, HMBS, HSD17B4, HSPD1, HTRA1, HYCC1, IFIH1, JAM3, L2HGDH, LAMA2, LAMB1, LMNB1, MCOLN1, MEF2C, MFF, MLC1, MPLKIP, MPZ, MRPS16, MTFMT, NDE1, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOTCH3, NPC1, NPC2, NUBPL, OCLN, OCRL, PAFAH1B1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PHYH, PLP1, PMP22, POLG, POLG2, POLR1C, POLR3A, POLR3B, PPT1, PRF1, PSAP, PSAT1, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, STX11, STXBP2, SUCLA2, SUMF1, SURF1, TACO1, TREM2, TREX1, TUBA1A, TUBA8, TUBB2B, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UNC13D, ZFYVE26

Super Painel

Super Painel for Leukodystrophies

Based on whole-genome sequencing (WGS)

171 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

AARS2, ABCD1, ACBD5, ACOX1, ADAR, ADGRG1, AIMP1, ALDH3A2, ARSA, ARX, ASPA, ATP7A, ATP7B, ATPAF2, BCAP31, BCS1L, BOLA3, CIC, CLCN2, COL4A1, COQ2, COQ8A, COQ9, COX10, COX15, CSF1R, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS1, DARS2, DCX, DGUOK, DPYD, EARS2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC2, ERCC3, ERCC6, ERCC8, ETFDH, FA2H, FLVCR2, FOLR1, FUCA1, GALC, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, GLB1, GM2A, GTF2H5, HEPACAM, HEXA, HEXB, HMBS, HSD17B4, HSPD1, HTRA1, HYCC1, IFIH1, JAM3, L2HGDH, LAMA2, LAMB1, LMNB1, MCOLN1, MEF2C, MFF, MLC1, MPLKIP, MPZ, MRPS16, MTFMT, NDE1, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOTCH3, NPC1, NPC2, NUBPL, OCLN, OCRL, PAFAH1B1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PHYH, PLP1, PMP22, POLG, POLG2, POLR1C, POLR3A, POLR3B, PPT1, PRF1, PSAP, PSAT1, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, STX11, STXBP2, SUCLA2, SUMF1, SURF1, TACO1, TREM2, TREX1, TUBA1A, TUBA8, TUBB2B, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UNC13D, ZFYVE26

NeoPainel

NeoPainel for Neurofibromatosis

Based on whole-exome sequencing (WES)

5 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

LZTR1, NF1, NF2, SMARCB1, SPRED1

Super Painel

Super Painel for Neurofibromatosis

Based on whole-genome sequencing (WGS)

5 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

LZTR1, NF1, NF2, SMARCB1, SPRED1

NeoPainel

NeoPainel for Neuropathies

Based on whole-exome sequencing (WES)

229 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

AAAS, AARS1, ABCC9, ABHD12, ACTC1, ACTN2, AIFM1, ALDH3A2, ANKRD1, AP1S1, APTX, ARHGEF10, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, BAG3, BRAF, BSCL2, CACNB4, CASQ2, CCT5, CHCHD10, CLTCL1, COA7, COQ7, COQ8A, COX6A1, CRYAB, CSRP3, CTDP1, CYP7B1, DCAF8, DCTN1, DES, DHH, DHTKD1, DMD, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DSC2, DSG2, DSP, DST, DTNA, DYNC1H1, EGR2, ELP1, EMD, EXOC4, FBLN5, FBXO38, FGD4, FGF14, FIG4, FKTN, FXN, GAA, GAN, GARS1, GATAD1, GBE1, GDAP1, GJB1, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HINT1, HK1, HMBS, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, ITPR1, JPH1, JUP, KARS1, KCNA1, KIF1A, KIF1B, KIF5A, KLC2, KRAS, L1CAM, LAMA4, LAMP2, LAS1L, LDB3, LITAF, LMNA, LRSAM1, MAP2K1, MAP2K2, MARS1, MCM3AP, MED25, MEGF10, MFN2, MME, MORC2, MPV17, MPZ, MRE11, MTMR2, MTRFR, MTTP, MYBPC3, MYH14, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NAGLU, NDRG1, NEBL, NEFH, NEFL, NEXN, NGF, NRAS, NTRK1, OPA1, PDHA1, PDK3, PDLIM3, PEX7, PHYH, PKP2, PLEKHG5, PLN, PLP1, PMP22, PNPLA6, POLG, POLG2, PRDM12, PRKAG2, PRKCG, PRPS1, PRX, PTPN11, RAB7A, RAF1, RBM20, REEP1, RETREG1, RNF170, RYR2, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN5A, SCN9A, SCO2, SCP2, SEPTIN9, SETX, SGCD, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC1A3, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SNAP29, SORD, SOS1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TAFAZZIN, TBCE, TCAP, TDP1, TFG, TK2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRIM2, TRPV4, TTBK2, TTN, TTPA, TTR, TWNK, TYMP, UBA1, VAPB, VCL, VCP, WASHC5, WNK1, YARS1, ZFYVE26, ZFYVE27

Super Painel

Super Painel for Neuropathies

Based on whole-genome sequencing (WGS)

229 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

AAAS, AARS1, ABCC9, ABHD12, ACTC1, ACTN2, AIFM1, ALDH3A2, ANKRD1, AP1S1, APTX, ARHGEF10, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, BAG3, BRAF, BSCL2, CACNB4, CASQ2, CCT5, CHCHD10, CLTCL1, COA7, COQ7, COQ8A, COX6A1, CRYAB, CSRP3, CTDP1, CYP7B1, DCAF8, DCTN1, DES, DHH, DHTKD1, DMD, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DSC2, DSG2, DSP, DST, DTNA, DYNC1H1, EGR2, ELP1, EMD, EXOC4, FBLN5, FBXO38, FGD4, FGF14, FIG4, FKTN, FXN, GAA, GAN, GARS1, GATAD1, GBE1, GDAP1, GJB1, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HINT1, HK1, HMBS, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, ITPR1, JPH1, JUP, KARS1, KCNA1, KIF1A, KIF1B, KIF5A, KLC2, KRAS, L1CAM, LAMA4, LAMP2, LAS1L, LDB3, LITAF, LMNA, LRSAM1, MAP2K1, MAP2K2, MARS1, MCM3AP, MED25, MEGF10, MFN2, MME, MORC2, MPV17, MPZ, MRE11, MTMR2, MTRFR, MTTP, MYBPC3, MYH14, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NAGLU, NDRG1, NEBL, NEFH, NEFL, NEXN, NGF, NRAS, NTRK1, OPA1, PDHA1, PDK3, PDLIM3, PEX7, PHYH, PKP2, PLEKHG5, PLN, PLP1, PMP22, PNPLA6, POLG, POLG2, PRDM12, PRKAG2, PRKCG, PRPS1, PRX, PTPN11, RAB7A, RAF1, RBM20, REEP1, RETREG1, RNF170, RYR2, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN5A, SCN9A, SCO2, SCP2, SEPTIN9, SETX, SGCD, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC1A3, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SNAP29, SORD, SOS1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TAFAZZIN, TBCE, TCAP, TDP1, TFG, TK2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRIM2, TRPV4, TTBK2, TTN, TTPA, TTR, TWNK, TYMP, UBA1, VAPB, VCL, VCP, WASHC5, WNK1, YARS1, ZFYVE26, ZFYVE27

NeoPainel

NeoPainel for Spastic Paraplegias and Amyotrophic Lateral Sclerosis

Based on whole-exome sequencing (WES)

155 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCD1, ABHD12, ACO2, ACOX1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, ANXA11, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARHGEF28, ARL6IP1, ATL1, ATL3, ATP13A2, ATRX, B4GALNT1, BICD2, BSCL2, C19ORF12, CAPN1, CCT5, CFAP410, CHCHD10, CHGB, CHMP2B, CRYM, CYP27A1, CYP2U1, CYP7B1, DAO, DARS1, DCTN1, DDHD1, DDHD2, DSTYK, DYNC1H1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FIG4, FUS, GAD1, GARS1, GBA2, GCH1, GJC2, GM2A, GRN, HACE1, HEXA, HEXB, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, HSPD1, IBA57, IFIH1, IGHMBP2, ITPR1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LUM, LYST, MAG, MAPT, MARS1, MARS2, MATR3, MFN2, MTPAP, MTRFR, NARS2, NEFH, NEK1, NIPA1, NT5C2, OPA3, OPTN, PARK7, PFN1, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PRPH, PSEN1, RAB3GAP2, REEP1, REEP2, RNF170, RTN2, SACS, SARS2, SERAC1, SETX, SIGMAR1, SLC16A2, SLC25A15, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SQSTM1, TAF15, TARDBP, TBK1, TECPR2, TFG, TP73, TREM2, TRPM7, TRPV4, TUBA4A, TUBB4A, UBAP1, UBQLN2, UCHL1, UNC13A, UNC80, USP8, VAMP1, VAPB, VCP, VEGFA, VPS37A, WASHC5, WDR45B, ZEB2, ZFYVE26, ZFYVE27

Super Painel

Super Painel for Spastic Paraplegias and Amyotrophic Lateral Sclerosis

Based on whole-genome sequencing (WGS)

155 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCD1, ABHD12, ACO2, ACOX1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, ANXA11, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARHGEF28, ARL6IP1, ATL1, ATL3, ATP13A2, ATRX, B4GALNT1, BICD2, BSCL2, C19ORF12, CAPN1, CCT5, CFAP410, CHCHD10, CHGB, CHMP2B, CRYM, CYP27A1, CYP2U1, CYP7B1, DAO, DARS1, DCTN1, DDHD1, DDHD2, DSTYK, DYNC1H1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FIG4, FUS, GAD1, GARS1, GBA2, GCH1, GJC2, GM2A, GRN, HACE1, HEXA, HEXB, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, HSPD1, IBA57, IFIH1, IGHMBP2, ITPR1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LUM, LYST, MAG, MAPT, MARS1, MARS2, MATR3, MFN2, MTPAP, MTRFR, NARS2, NEFH, NEK1, NIPA1, NT5C2, OPA3, OPTN, PARK7, PFN1, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PRPH, PSEN1, RAB3GAP2, REEP1, REEP2, RNF170, RTN2, SACS, SARS2, SERAC1, SETX, SIGMAR1, SLC16A2, SLC25A15, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SQSTM1, TAF15, TARDBP, TBK1, TECPR2, TFG, TP73, TREM2, TRPM7, TRPV4, TUBA4A, TUBB4A, UBAP1, UBQLN2, UCHL1, UNC13A, UNC80, USP8, VAMP1, VAPB, VCP, VEGFA, VPS37A, WASHC5, WDR45B, ZEB2, ZFYVE26, ZFYVE27

Ophthalmology

2 options available

NeoPainel

NeoPainel for Hereditary Retinopathies

Based on whole-exome sequencing (WES)

367 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCA4, ABCB5, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTS9, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, ALMS1, ALPK1, AMACR, ARFGAP2, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ASRGL1, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP120, CEP162, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP20, CFAP410, CFAP418, CFH, CHM, CIB2, CISD2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTNNA1, CTNNB1, CTSD, CTSF, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, DNAJC5, DNM1L, DRAM2, DYNC2H1, EFEMP1, ELOVL4, EMC1, ERCC6, ESPN, EXOSC2, EYS, FAM161A, FBLN5, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HGSNAT, HK1, HKDC1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT54, IFT74, IFT88, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, IRX5, ITM2B, JAG1, KCNJ13, KCNV2, KCTD7, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF3B, KIF7, KIZ, KLHL7, LAMA1, LARGE1, LCA5, LRAT, LRIT3, LRMDA, LRP2, LRP5, LYST, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MTPAP, MTRFR, MTTP, MVK, MYO7A, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUMB, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OTX2, PAK2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PIBF1, PISD, PITPNM3, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPP2R3C, PPP2R5E, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PYGM, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SCAPER, SCLT1, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC24A5, SLC25A46, SLC30A7, SLC39A12, SLC45A2, SLC66A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, SSBP1, STX3, SUFU, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TLCD3B, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TOPORS, TPP1, TRAPPC3, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXNDC15, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, USO1, USP45, VCAN, VPS13B, VSX2, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZNF408, ZNF423, ZNF513

Super Painel

Super Painel for Hereditary Retinopathies

Based on whole-genome sequencing (WGS)

367 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCA4, ABCB5, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTS9, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, ALMS1, ALPK1, AMACR, ARFGAP2, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ASRGL1, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP120, CEP162, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP20, CFAP410, CFAP418, CFH, CHM, CIB2, CISD2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTNNA1, CTNNB1, CTSD, CTSF, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, DNAJC5, DNM1L, DRAM2, DYNC2H1, EFEMP1, ELOVL4, EMC1, ERCC6, ESPN, EXOSC2, EYS, FAM161A, FBLN5, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HGSNAT, HK1, HKDC1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT54, IFT74, IFT88, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, IRX5, ITM2B, JAG1, KCNJ13, KCNV2, KCTD7, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF3B, KIF7, KIZ, KLHL7, LAMA1, LARGE1, LCA5, LRAT, LRIT3, LRMDA, LRP2, LRP5, LYST, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MTPAP, MTRFR, MTTP, MVK, MYO7A, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUMB, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OTX2, PAK2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PIBF1, PISD, PITPNM3, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPP2R3C, PPP2R5E, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PYGM, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SCAPER, SCLT1, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC24A5, SLC25A46, SLC30A7, SLC39A12, SLC45A2, SLC66A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, SSBP1, STX3, SUFU, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TLCD3B, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TOPORS, TPP1, TRAPPC3, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXNDC15, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, USO1, USP45, VCAN, VPS13B, VSX2, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZNF408, ZNF423, ZNF513

Oncology

16 options available

NeoPainel

NeoPainel Cancer

Based on whole-exome sequencing (WES)

106 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome with curated oncological panel and specific pipelines for PMS2 and Alu insertion in BRCA2.

What is analyzed

Exomic coverage in target genes, coding regions and splice edges; CNVs in events of three or more exons.

Genes analyzed

AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DDX41, DICER1, DKC1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FAN1, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MDH2, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POT1, PRF1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, RNF43, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRAP53, WT1, XRCC2

Super Painel

Super Painel Cancer

Based on whole-genome sequencing (WGS)

106 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Whole genome sequencing (WGS) with curated panel of 106 risk genes.

What is analyzed

CNVs from an exon, relevant intronic and regulatory regions, PRS for breast cancer and oncological pharmacogenomics.

Genes analyzed

AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DDX41, DICER1, DKC1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FAN1, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MDH2, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POT1, PRF1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, RNF43, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRAP53, WT1, XRCC2

NeoPainel

NeoPainel for Hereditary Colorectal Cancer

Based on whole-exome sequencing (WES)

46 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

APC, ATM, AXIN2, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EGFR, EPCAM, FANCC, FLCN, GALNT12, GREM1, IPMK, MBD4, MEN1, MET, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, PMS2CL, POLD1, POLE, PTEN, RABL3, RAD51C, RAD51D, RECQL, RET, RNF43, RPS20, SMAD4, STK11, TP53

Super Painel

Super Painel for Hereditary Colorectal Cancer

Based on whole-genome sequencing (WGS)

46 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

APC, ATM, AXIN2, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EGFR, EPCAM, FANCC, FLCN, GALNT12, GREM1, IPMK, MBD4, MEN1, MET, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, PMS2CL, POLD1, POLE, PTEN, RABL3, RAD51C, RAD51D, RECQL, RET, RNF43, RPS20, SMAD4, STK11, TP53

NeoPainel

NeoPainel for Hereditary Breast and Ovarian Cancer

Based on whole-exome sequencing (WES)

101 genes

Standard

30 calendar days, after order confirmation

Fast

15 calendar days, after order confirmation

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

AIP, AKT1, ALK, APC, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, IPMK, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RNF43, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2

Super Painel

Super Painel for Hereditary Breast and Ovarian Cancer

Based on whole-genome sequencing (WGS)

101 genes

Standard

30 calendar days, after order confirmation

Fast

15 calendar days, after order confirmation

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

AIP, AKT1, ALK, APC, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, IPMK, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RNF43, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2

NeoPainel

NeoPainel for Hereditary Prostate Cancer

Based on whole-exome sequencing (WES)

39 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK4, CDKN2A, CHEK1, CHEK2, EGFR, EPCAM, FANCA, FANCC, FANCL, FANCM, HOXB13, MEN1, MET, MLH1, MRE11, MSH2, MSH6, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51, RAD51B, RAD51C, RAD51D, RET, STK11, TP53

Super Painel

Super Painel for Hereditary Prostate Cancer

Based on whole-genome sequencing (WGS)

39 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK4, CDKN2A, CHEK1, CHEK2, EGFR, EPCAM, FANCA, FANCC, FANCL, FANCM, HOXB13, MEN1, MET, MLH1, MRE11, MSH2, MSH6, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51, RAD51B, RAD51C, RAD51D, RET, STK11, TP53

NeoPainel

NeoPainel for Hereditary Gastric Cancer

Based on whole-exome sequencing (WES)

28 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

APC, ATM, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, GREM1, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, TP53, VHL

Super Painel

Super Painel for Hereditary Gastric Cancer

Based on whole-genome sequencing (WGS)

28 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

APC, ATM, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, GREM1, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, TP53, VHL

NeoPainel

NeoPainel for Hereditary Cancer with CNV Analysis

Based on whole-exome sequencing (WES)

246 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ACD, AIP, AKT1, ALK, ANKRD26, APC, ARMC5, ASXL1, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CABLES1, CASP10, CASP9, CBL, CD70, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK1, CHEK2, CREBBP, CSF3R, CTC1, CTNNA1, CTNNB1, CTR9, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, DLST, DNAJC21, DNMT3B, DOCK8, EFL1, EGFR, EGLN1, EGLN2, EPAS1, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ETV6, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FBXW7, FGFR1, FH, FIBP, FLCN, GALNT12, GATA1, GATA2, GLMN, GNAS, GPC3, GREM1, HNF1A, HNF1B, HOXB13, HRAS, IPMK, JAG1, JAK2, KDM1A, KDM3B, KIF1B, KIT, KLLN, KRAS, LDAH, LIG4, LZTR1, MAD2L2, MAGT1, MAP2K1, MAP2K2, MAP3K1, MAX, MBD4, MC1R, MCM4, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MTAP, MUTYH, MYCN, NBN, NF1, NF2, NHP2, NOP10, NRAS, NSD1, NTHL1, NYNRIN, PALB2, PARN, PAX5, PBRM1, PDGFB, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPP2R3B, PRF1, PRKAR1A, PSMC3IP, PTCH1, PTCH2, PTEN, PTPN11, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RASA2, RB1, RBBP6, RECQL, RECQL4, RET, RFWD3, RHBDF2, RMI2, RNF139, RNF43, RPS20, RRAS, RSPO1, RTEL1, RUNX1, SAMD9, SAMD9L, SASH1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SETBP1, SH2B3, SH2D1A, SHOC2, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCAD1, SMARCB1, SMARCE1, SOS1, SPRTN, SRP54, SRP72, STAT3, STK11, SUFU, TERC, TERF2IP, TERT, TET2, TGFBR2, THSD1, TINF2, TMC6, TMC8, TMEM127, TOP3A, TP53, TPCN2, TRIM28, TRIP13, TSC1, TSC2, UBE2T, USP8, VHL, WAS, WIPF1, WRAP53, WRN, WT1, XIAP, XPA, XPC, XRCC2, ZNF687

Super Painel

Super Painel for Hereditary Cancer with CNV Analysis

Based on whole-genome sequencing (WGS)

246 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ACD, AIP, AKT1, ALK, ANKRD26, APC, ARMC5, ASXL1, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CABLES1, CASP10, CASP9, CBL, CD70, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK1, CHEK2, CREBBP, CSF3R, CTC1, CTNNA1, CTNNB1, CTR9, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, DLST, DNAJC21, DNMT3B, DOCK8, EFL1, EGFR, EGLN1, EGLN2, EPAS1, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ETV6, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FBXW7, FGFR1, FH, FIBP, FLCN, GALNT12, GATA1, GATA2, GLMN, GNAS, GPC3, GREM1, HNF1A, HNF1B, HOXB13, HRAS, IPMK, JAG1, JAK2, KDM1A, KDM3B, KIF1B, KIT, KLLN, KRAS, LDAH, LIG4, LZTR1, MAD2L2, MAGT1, MAP2K1, MAP2K2, MAP3K1, MAX, MBD4, MC1R, MCM4, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MTAP, MUTYH, MYCN, NBN, NF1, NF2, NHP2, NOP10, NRAS, NSD1, NTHL1, NYNRIN, PALB2, PARN, PAX5, PBRM1, PDGFB, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPP2R3B, PRF1, PRKAR1A, PSMC3IP, PTCH1, PTCH2, PTEN, PTPN11, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RASA2, RB1, RBBP6, RECQL, RECQL4, RET, RFWD3, RHBDF2, RMI2, RNF139, RNF43, RPS20, RRAS, RSPO1, RTEL1, RUNX1, SAMD9, SAMD9L, SASH1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SETBP1, SH2B3, SH2D1A, SHOC2, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCAD1, SMARCB1, SMARCE1, SOS1, SPRTN, SRP54, SRP72, STAT3, STK11, SUFU, TERC, TERF2IP, TERT, TET2, TGFBR2, THSD1, TINF2, TMC6, TMC8, TMEM127, TOP3A, TP53, TPCN2, TRIM28, TRIP13, TSC1, TSC2, UBE2T, USP8, VHL, WAS, WIPF1, WRAP53, WRN, WT1, XIAP, XPA, XPC, XRCC2, ZNF687

NeoPainel

NeoPainel for Pheochromocytoma and Paraganglioma

Based on whole-exome sequencing (WES)

27 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ATM, ATR, CDKN2A, DLST, EGLN1, EGLN2, EPAS1, FH, HRAS, KIF1B, KMT2D, MAX, MDH2, MEN1, MERTK, MET, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, TMEM127, TP53, VHL

Super Painel

Super Painel for Pheochromocytoma and Paraganglioma

Based on whole-genome sequencing (WGS)

27 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ATM, ATR, CDKN2A, DLST, EGLN1, EGLN2, EPAS1, FH, HRAS, KIF1B, KMT2D, MAX, MDH2, MEN1, MERTK, MET, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, TMEM127, TP53, VHL

NeoPainel

NeoPainel for Lynch Syndrome with CNV Analysis

Based on whole-exome sequencing (WES)

11 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ATM, BLM, CHEK2, EPCAM, GALNT12, MLH1, MSH2, MSH6, PMS2, PMS2CL, TP53

Super Painel

Super Painel for Lynch Syndrome with CNV Analysis

Based on whole-genome sequencing (WGS)

11 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ATM, BLM, CHEK2, EPCAM, GALNT12, MLH1, MSH2, MSH6, PMS2, PMS2CL, TP53

Orthopedics

4 options available

NeoPainel

NeoPainel for Craniosynostoses

Based on whole-exome sequencing (WES)

65 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ADAMTSL4, ALX4, ASXL1, B3GAT3, CDC45, CDT1, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FBN1, FGFR1, FGFR2, FGFR3, FREM1, GINS2, GLI3, GPC3, IFT122, IFT140, IFT43, IGF1R, IHH, IL11RA, KAT6A, KAT6B, MASP1, MEGF8, MSX2, NFIA, ORC1, ORC4, ORC6, PAN2, POLR2A, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SCARF2, SEC24D, SIM2, SIX1, SIX2, SKI, SLC25A24, SMAD2, SMAD3, SMAD6, SOX6, SPECC1L, STAT3, TCF12, TCOF1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1

Super Painel

Super Painel for Craniosynostoses

Based on whole-genome sequencing (WGS)

65 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ADAMTSL4, ALX4, ASXL1, B3GAT3, CDC45, CDT1, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FBN1, FGFR1, FGFR2, FGFR3, FREM1, GINS2, GLI3, GPC3, IFT122, IFT140, IFT43, IGF1R, IHH, IL11RA, KAT6A, KAT6B, MASP1, MEGF8, MSX2, NFIA, ORC1, ORC4, ORC6, PAN2, POLR2A, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SCARF2, SEC24D, SIM2, SIX1, SIX2, SKI, SLC25A24, SMAD2, SMAD3, SMAD6, SOX6, SPECC1L, STAT3, TCF12, TCOF1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1

NeoPainel

NeoPainel for Skeletal Dysplasias

Based on whole-exome sequencing (WES)

671 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AFF4, AGA, AGPS, AHI1, AIFM1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSL, ASCC1, ASPM, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATRIP, ATXN10, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC134, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDH23, CDH3, CDK5RAP2, CDKN1C, CDT1, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CFAP410, CFTR, CHST11, CHST14, CHST3, CHSY1, CHUK, CILK1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CPAP, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRIPT, CRTAP, CRX, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSC, CTSK, CUL7, CWC27, CYP26B1, CYP27B1, CYP2R1, DACT1, DCC, DDR2, DDRGK1, DHCR24, DHODH, DIP2C, DIS3L2, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DOLPP1, DONSON, DPM1, DPM2, DPM3, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDNRA, EED, EFNB1, EFTUD2, EHHADH, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, EZH2, FAH, FAM111A, FAM20B, FAM20C, FAR1, FAT4, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FNDC3B, FOXC1, FOXH1, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF1, GDF3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GLI1, GLI3, GLIS2, GMNN, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HDAC4, HDAC5, HDAC6, HDAC8, HES7, HGSNAT, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPK, HOXA11, HOXA13, HOXD11, HOXD13, HPGD, HSPG2, HYAL1, HYLS1, IARS2, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT54, IFT57, IFT74, IFT80, IFT81, IFT88, IGF1, IGF1R, IGF2, IHH, IKBKG, IL11RA, IL1RN, IMPDH1, INPPL1, INTU, INVS, IQCB1, IQCE, JAG1, KAT6A, KAT6B, KCNJ13, KCNT2, KDELR2, KIAA0586, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, KYNU, LARP7, LBR, LCA5, LEFTY2, LEMD3, LFNG, LIFR, LIG4, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MCPH1, MECOM, MEGF8, MEOX1, MESD, MESP2, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYH3, MYO18B, MYO7A, MYT1, NAGLU, NANS, NBAS, NEK1, NEK8, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NPR3, NSD1, NSDHL, NSMCE2, NT5E, NTRK1, NUDT6, NXN, OAT, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCGF2, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PHLDB1, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIN1, PIR, PISD, PITX1, PKD2, PKDCC, PKHD1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, PORCN, PPIB, PPP3CA, PRG4, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIGI, RIN1, RIPPLY2, RMRP, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL13, RSPH4A, RSPH9, RSPO2, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SC5D, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC23A, SEC24D, SEM1, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIK3, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SQSTM1, SRCAP, SUCO, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDP2, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM256, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TONSL, TOPORS, TP63, TRAIP, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TSLIG3C, TTC21B, TTC8, TUBGCP4, TUBGCP6, TULP1, TWIST1, TWIST2, TYROBP, UBE3B, UFSP2, UMOD, UNC45A, USH1C, USH1G, USH2A, USP9X, VAC14, VCP, VDR, VHL, VPS33A, WDPCP, WDR19, WDR35, WDR4, WHRN, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC1, ZIC3, ZMPSTE24, ZNF141, ZNF423, ZNF687, ZSWIM6

Super Painel

Super Painel for Skeletal Dysplasias

Based on whole-genome sequencing (WGS)

671 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AFF4, AGA, AGPS, AHI1, AIFM1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSL, ASCC1, ASPM, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATRIP, ATXN10, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC134, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDH23, CDH3, CDK5RAP2, CDKN1C, CDT1, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CFAP410, CFTR, CHST11, CHST14, CHST3, CHSY1, CHUK, CILK1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CPAP, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRIPT, CRTAP, CRX, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSC, CTSK, CUL7, CWC27, CYP26B1, CYP27B1, CYP2R1, DACT1, DCC, DDR2, DDRGK1, DHCR24, DHODH, DIP2C, DIS3L2, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DOLPP1, DONSON, DPM1, DPM2, DPM3, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDNRA, EED, EFNB1, EFTUD2, EHHADH, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, EZH2, FAH, FAM111A, FAM20B, FAM20C, FAR1, FAT4, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FNDC3B, FOXC1, FOXH1, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF1, GDF3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GLI1, GLI3, GLIS2, GMNN, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HDAC4, HDAC5, HDAC6, HDAC8, HES7, HGSNAT, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPK, HOXA11, HOXA13, HOXD11, HOXD13, HPGD, HSPG2, HYAL1, HYLS1, IARS2, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT54, IFT57, IFT74, IFT80, IFT81, IFT88, IGF1, IGF1R, IGF2, IHH, IKBKG, IL11RA, IL1RN, IMPDH1, INPPL1, INTU, INVS, IQCB1, IQCE, JAG1, KAT6A, KAT6B, KCNJ13, KCNT2, KDELR2, KIAA0586, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, KYNU, LARP7, LBR, LCA5, LEFTY2, LEMD3, LFNG, LIFR, LIG4, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MCPH1, MECOM, MEGF8, MEOX1, MESD, MESP2, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYH3, MYO18B, MYO7A, MYT1, NAGLU, NANS, NBAS, NEK1, NEK8, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NPR3, NSD1, NSDHL, NSMCE2, NT5E, NTRK1, NUDT6, NXN, OAT, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCGF2, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PHLDB1, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIN1, PIR, PISD, PITX1, PKD2, PKDCC, PKHD1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, PORCN, PPIB, PPP3CA, PRG4, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIGI, RIN1, RIPPLY2, RMRP, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL13, RSPH4A, RSPH9, RSPO2, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SC5D, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC23A, SEC24D, SEM1, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIK3, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SQSTM1, SRCAP, SUCO, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDP2, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM256, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TONSL, TOPORS, TP63, TRAIP, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TSLIG3C, TTC21B, TTC8, TUBGCP4, TUBGCP6, TULP1, TWIST1, TWIST2, TYROBP, UBE3B, UFSP2, UMOD, UNC45A, USH1C, USH1G, USH2A, USP9X, VAC14, VCP, VDR, VHL, VPS33A, WDPCP, WDR19, WDR35, WDR4, WHRN, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC1, ZIC3, ZMPSTE24, ZNF141, ZNF423, ZNF687, ZSWIM6

Otolaryngology

2 options available

NeoPainel

NeoPainel for Hereditary Hearing Loss (Expanded)

Based on whole-exome sequencing (WES)

368 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Exome

What is analyzed

Analysis of the listed genes using exome data and the laboratory’s validated technical criteria.

Genes analyzed

A2ML1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALDH1A2, ALMS1, AP1B1, APAF1, AQP4, ARSB, ARSG, ATOH1, ATP11A, ATP1A2, ATP1A3, ATP2B2, ATP6V0A4, ATP6V1B1, ATP8B1, AXIN1, BBS1, BBS4, BCAP31, BCR, BCS1L, BDP1, BLOC1S6, BMP4, BSND, BTD, CABP2, CACNA1D, CACNB2, CACNG2, CASP3, CATSPER2, CCDC50, CD151, CDC14A, CDH23, CDKN1B, CEACAM16, CELSR1, CEP250, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DDB2, DDR1, DIABLO, DIAPH1, DIAPH3, DIO2, DLX5, DMD, DMXL2, DNAJC3, DNMT1, DSPP, ECE1, EDN1, EDN3, EDNRA, EDNRB, EFTUD2, ELMOD3, EPHB2, EPS8, EPS8L2, ERAL1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ESPN, ESRRB, EYA1, EYA4, FABP4, FAS, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FITM2, FKBP14, FOXC1, FOXI1, FZD3, FZD6, GALNS, GATA3, GDF6, GFER, GFI1, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, GLB1, GLI3, GNAI3, GPR156, GPRASP2, GPSM2, GPX1, GRAP, GREB1L, GRHL2, GRID1, GRXCR1, GRXCR2, GSDME, GSTP1, GUSB, HAL, HARS1, HARS2, HGF, HGSNAT, HMX2, HOMER2, HOXA2, HSD17B4, HTRA2, IDS, IDUA, IFNLR1, IGF1, ILDR1, JAG1, JAG2, KARS1, KCNJ10, KCNMA1, KCNQ1, KCNQ4, KIT, KITLG, LAMA2, LARGE1, LARS2, LFNG, LHFPL5, LHX3, LMX1A, LOXHD1, LOXL3, LRP2, LRTOMT, MAFB, MAN2B1, MAP1B, MARVELD2, MASP1, MEOX1, MINAR2, MIR96, MITF, MKKS, MPV17, MPZL2, MRPS2, MSRB3, MSX2, MTAP, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NAGLU, NARS2, NAV2, NDP, NDRG1, NEU1, NEUROD1, NF1, NF2, NLRP3, NOG, NOTCH1, NR2F1, NTF3, NTRK2, NTRK3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTX2, PAX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHEX, PHYH, PI4KB, PITX2, PJVK, PKHD1L1, PLCB4, PLS1, PMP22, PNPT1, POLD1, POLH, POLR1C, POLR1D, POU1F1, POU3F4, POU4F3, PROP1, PRPS1, PRRX1, PTK7, PTPRQ, RAI1, RASA1, RDX, REST, RIPOR2, RMND1, ROR1, RPGR, RPS6KA3, S1PR2, SALL1, SCARB2, SCRIB, SDHD, SEMA3E, SERAC1, SERPINB6, SGSH, SH3TC2, SIX1, SIX5, SLC12A2, SLC12A6, SLC17A8, SLC19A2, SLC1A3, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMARCA4, SMPX, SMS, SNAI2, SOBP, SOD1, SOX10, SOX2, SOX9, SPINK5, SPNS2, SPRY2, ST3GAL5, STRC, SYNE4, TBC1D24, TBL1X, TBX1, TBX10, TCF21, TCOF1, TECTA, TFAP2A, TGFB2, THRA, THRB, TIMM8A, TJP2, TMC1, TMEM126A, TMEM132E, TMEM43, TMIE, TMPRSS3, TMPRSS5, TNC, TPRN, TRIOBP, TRMT10C, TRMU, TRPV4, TRRAP, TSHZ1, TSPEAR, TUBB4B, TWNK, TYRP1, UBR1, USH1C, USH1G, USH2A, USP48, VANGL2, WBP2, WFS1, WHRN, XPA, XPC, XYLT2, YAP1, ZNF469

Super Painel

Super Painel for Hereditary Hearing Loss (Expanded)

Based on whole-genome sequencing (WGS)

368 genes

Standard

30 calendar days, after acceptance of the sample

Fast

15 calendar days, after acceptance of the sample

Test details
View method and genes

Sequencing method

Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.

What is analyzed

Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.

Genes analyzed

A2ML1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALDH1A2, ALMS1, AP1B1, APAF1, AQP4, ARSB, ARSG, ATOH1, ATP11A, ATP1A2, ATP1A3, ATP2B2, ATP6V0A4, ATP6V1B1, ATP8B1, AXIN1, BBS1, BBS4, BCAP31, BCR, BCS1L, BDP1, BLOC1S6, BMP4, BSND, BTD, CABP2, CACNA1D, CACNB2, CACNG2, CASP3, CATSPER2, CCDC50, CD151, CDC14A, CDH23, CDKN1B, CEACAM16, CELSR1, CEP250, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DDB2, DDR1, DIABLO, DIAPH1, DIAPH3, DIO2, DLX5, DMD, DMXL2, DNAJC3, DNMT1, DSPP, ECE1, EDN1, EDN3, EDNRA, EDNRB, EFTUD2, ELMOD3, EPHB2, EPS8, EPS8L2, ERAL1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ESPN, ESRRB, EYA1, EYA4, FABP4, FAS, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FITM2, FKBP14, FOXC1, FOXI1, FZD3, FZD6, GALNS, GATA3, GDF6, GFER, GFI1, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, GLB1, GLI3, GNAI3, GPR156, GPRASP2, GPSM2, GPX1, GRAP, GREB1L, GRHL2, GRID1, GRXCR1, GRXCR2, GSDME, GSTP1, GUSB, HAL, HARS1, HARS2, HGF, HGSNAT, HMX2, HOMER2, HOXA2, HSD17B4, HTRA2, IDS, IDUA, IFNLR1, IGF1, ILDR1, JAG1, JAG2, KARS1, KCNJ10, KCNMA1, KCNQ1, KCNQ4, KIT, KITLG, LAMA2, LARGE1, LARS2, LFNG, LHFPL5, LHX3, LMX1A, LOXHD1, LOXL3, LRP2, LRTOMT, MAFB, MAN2B1, MAP1B, MARVELD2, MASP1, MEOX1, MINAR2, MIR96, MITF, MKKS, MPV17, MPZL2, MRPS2, MSRB3, MSX2, MTAP, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NAGLU, NARS2, NAV2, NDP, NDRG1, NEU1, NEUROD1, NF1, NF2, NLRP3, NOG, NOTCH1, NR2F1, NTF3, NTRK2, NTRK3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTX2, PAX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHEX, PHYH, PI4KB, PITX2, PJVK, PKHD1L1, PLCB4, PLS1, PMP22, PNPT1, POLD1, POLH, POLR1C, POLR1D, POU1F1, POU3F4, POU4F3, PROP1, PRPS1, PRRX1, PTK7, PTPRQ, RAI1, RASA1, RDX, REST, RIPOR2, RMND1, ROR1, RPGR, RPS6KA3, S1PR2, SALL1, SCARB2, SCRIB, SDHD, SEMA3E, SERAC1, SERPINB6, SGSH, SH3TC2, SIX1, SIX5, SLC12A2, SLC12A6, SLC17A8, SLC19A2, SLC1A3, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMARCA4, SMPX, SMS, SNAI2, SOBP, SOD1, SOX10, SOX2, SOX9, SPINK5, SPNS2, SPRY2, ST3GAL5, STRC, SYNE4, TBC1D24, TBL1X, TBX1, TBX10, TCF21, TCOF1, TECTA, TFAP2A, TGFB2, THRA, THRB, TIMM8A, TJP2, TMC1, TMEM126A, TMEM132E, TMEM43, TMIE, TMPRSS3, TMPRSS5, TNC, TPRN, TRIOBP, TRMT10C, TRMU, TRPV4, TRRAP, TSHZ1, TSPEAR, TUBB4B, TWNK, TYRP1, UBR1, USH1C, USH1G, USH2A, USP48, VANGL2, WBP2, WFS1, WHRN, XPA, XPC, XYLT2, YAP1, ZNF469

Which method is appropriate for the case?

The genes analyzed and technical limitations vary by test. Check the details or discuss the clinical question with our team.

Compare genome and exomeSpeak to the team