Super Painel for Inborn Errors of Metabolism

This panel analyzes a comprehensive set of genes associated with inborn errors of metabolism (IEM), including lysosomal and mitochondrial disorders and disorders of organic acids, amino acids, carbohydrates, lipids and other metabolic pathways.

Applications

Rare and hereditary diseases

Accepted samples

Peripheral blood (preferred), Buccal swab, Extracted DNA

Estimated turnaround time

Standard · 30 calendar days, after acceptance of the sample Fast · 15 calendar days, after acceptance of the sample

Sequencing method

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

Analytical scope

Analysis of the listed genes, associated with inborn errors of metabolism, using genome data and the laboratory’s validated technical criteria.

Genes analyzed

763 genes analyzed.

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AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACY1, ADA, ADAR, ADSL, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AHCY, AIFM1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMT, ANO10, APOA1, APOA5, APOB, APOC2, APOE, APRT, APTX, ARG1, ARSA, ARSB, ARSG, ARSK, ARSL, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATIC, ATP13A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MC3, ATP5PO, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, BAAT, BCAT2, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BTD, C19ORF12, C1QBP, CA5A, CARS2, CAT, CBLIF, CBS, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CISD2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COA6, COA7, COA8, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX5A, COX6A1, COX6B1, COX7B, COXFA4, CP, CPOX, CPS1, CPT1A, CPT2, CREB3L3, CRLS1, CRPPA, CSGALNACT1, CTH, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CYC1, CYP27A1, CYP7B1, D2HGDH, DARS1, DARS2, DBH, DBT, DCXR, DDC, DDOST, DGUOK, DHCR24, DHCR7, DHFR, DHODH, DHRSX, DHTKD1, DLAT, DLD, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, EARS2, EBP, ECHS1, EDEM3, EHBP1L1, ELAC2, ENO3, EOGT, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FARS2, FASTKD2, FBP1, FBXL4, FCSK, FDX2, FDXR, FECH, FGFR2, FH, FKRP, FKTN, FLAD1, FMO3, FOLR1, FOXRED1, FTCD, FUCA1, FUT8, FXN, G6PC1, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAMT, GARS1, GATM, GBA1, GBE1, GCDH, GCH1, GCLC, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GK, GLA, GLB1, GLDC, GLRA1, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPD1, GPHN, GPIHBP1, GRHPR, GRN, GSS, GSTZ1, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HPD, HPRT1, HPS1, HS2ST1, HSD17B10, HSD17B4, HSD3B7, HSPA9, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, ISCA1, ISCA2, ISCU, ITPA, IVD, KARS1, KYNU, L2HGDH, LAMP2, LARGE1, LARS1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LETM1, LFNG, LIAS, LIPA, LIPT1, LIPT2, LMBRD1, LMF1, LONP1, LPIN1, LPL, LRPPRC, LYRM4, LYRM7, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRM2, MRPL3, MRPL44, MRPS2, MRPS22, MRPS34, MSMO1, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFR, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MTR, MTRFR, MT-RNR1, MTRR, 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, MTTP, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MVK, NADK2, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NFS1, NFU1, NGLY1, NHLRC1, NNT, NPC1, NPC2, NSDHL, NSUN3, NT5C3A, NT5E, NUBPL, NUS1, OAT, OCRL, OGDH, OPA1, OPA3, OTC, OXCT1, PAH, PANK2, PARS2, PC, PCBD1, PCCA, PCCB, PCK1, PCSK9, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PINK1, PLA2G6, PMM2, PMPCA, PMPCB, PNP, PNPLA2, PNPLA8, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPA2, PPOX, PPT1, PRKAG2, PRODH, PRPS1, PSAP, PSAT1, PTCD3, PTS, PUS1, PYCR1, PYGL, PYGM, QDPR, QRSL1, RARS2, RBCK1, RBP4, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RPIA, RPL10, RRM2B, RTN4IP1, RXYLT1, SACS, SAMHD1, SAR1B, SARS2, SC5D, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SETX, SFXN4, SGSH, SHMT2, SI, SKIC2, SKIC3, SLC12A3, SLC13A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC5A6, SLC6A19, SLC6A3, SLC6A8, SLC7A7, SLC7A9, SMPD1, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSBP1, SSR4, ST3GAL3, ST3GAL5, STS, STT3A, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, TACO1, TAFAZZIN, TALDO1, TANGO2, TARS2, TAT, TCN2, TFAM, TFR2, TH, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126B, TMEM165, TMEM70, TOP3A, TPK1, TPP1, TRAP1, TREX1, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TSFM, TTC19, TTPA, TUFM, TUSC3, TWNK, TYMP, UGT1A1, UMOD, UMPS, UPB1, UQCC2, UQCRB, UQCRC2, UQCRFS1, UROD, UROS, VARS2, VIPAS39, VKORC1, VMA12, VMA22, VPS16, VPS33A, VPS33B, WARS2, WDR45, WFS1, XDH, XPNPEP3, XYLT1, XYLT2, YARS2

Medical order

Required