Reproductive genetic screening
O NeoPainel Plus Carrier analyzes 1,059 genes associated with hereditary conditions and includes additional analyzes for Fragile X Syndrome and SMN1. O Duo carries out the same investigation on both partners and compares the results.
Information before pregnancy
Screening looks for pathogenic or likely pathogenic variants associated primarily with autosomal recessive and X-linked conditions. The result can guide genetic counseling, partner assessment and individualized discussion of reproductive possibilities.
Modalities
Plus for individual analysis. Duo for the couple, with examination of each partner and integrated comparison of results.
Individual test
Recommended for those who want to know their carrier status before or during reproductive planning.
Examination for the couple
Performs the Plus protocol for each partner and adds an integrated reading of reproductive genetic compatibility.
Individual tests with joint analysis of genetic compatibility.
Combined technology
The protocol combines whole-genome sequencing with region-specific strategies that require specialized methods and interpretation.
Test basis
Second generation sequencing, minimum average coverage of 30x and at least 95% of bases above 15x. The analysis includes point variants, CNVs and structural variants.
Additional Analysis
A dedicated test evaluates CGG repeat expansions by PCR and capillary electrophoresis, differentiating normal, intermediate, pre-mutation and complete mutation ranges.
Additional Analysis
The number of copies of SMN1 is estimated by a specific pipeline, with analysis of exons 7 and 8 and consolidation of tools to identify the carrier state.
Mask content
The scope brings together recessive and X-linked conditions from different systems, focusing on findings that can modify the individual or couple's counseling.
CFTR, PAH, GALT, ACADM, GAA and others.
HBA1, HBA2, HBB, G6PD, F8 and others.
SMN1, DMD, NEB, DYSF, RYR1 and others.
GJB2, GJB6, USH2A, ABCA4, RPE65 and others.
GBA1, HEXA, IDUA, GALC, SMPD1 and others.
PKHD1, COL4A3, COL4A4, COL4A5 and others.
Fragile-X Syndrome
Additional test dedicated to investigating CGG repeat expansions.
SMN1
Additional copy number assessment for Spinal Muscular Atrophy carrier screening.
The relationship of genes and the availability of additional analyzes must be confirmed in the request. The report presents the genes actually evaluated in each sample.
Genetic compatibility of the couple
The test analyzes each partner and compares the results gene by gene, respecting the inheritance pattern of each condition.
When both carry relevant variants in the same autosomal recessive gene, each pregnancy can have a 25% dhance of an affected child.
A couple may have findings in different genes without an increased combined risk for the same condition. Each result must still be interpreted individually.
The result reduces the risk for the included conditions, but does not eliminate it. Technical limitations and still unknown mechanisms need to be contextualized.
The 25% proportion is typical for relevant variants in the same gene as an autosomal recessive condition. X-linked conditions and other patterns require specific calculations.
Test day
An organized flow for individual or Duo modality, with interpretation of residual risk.
Definition of the individual or Duo modality and pre-test guidance.
Sample receipt and laboratory quality controls.
Complete genome, 1,059 gene mask and additional protocols.
Individual report and couple compatibility analysis in Duo mode.
Reproductive planning
The report informs the variants identified, the genes involved and what the result means for the person evaluated and for family planning.
Real excerpt from the NeoReport demonstration environment, cut without personal data.
Frequently asked questions
Genetic counseling helps to contextualize indications, limitations and next steps.
For people and couples who want to know about reproductive genetic risks, including before pregnancy, in assisted reproduction or when there is a relevant family history. The final indication must be individualized.
Plus describes a person's carrier status. Duo screens both partners and adds joint analysis to identify shared reproductive risks.
They are highlighted as additional analyzes because they require specific strategies: CGG repeats for Fragile X Syndrome and copy number for SMN1. Availability must be confirmed when ordering.
No. The result reduces the probability for the conditions and variants evaluated, but does not exclude changes outside the mask, regions that are difficult to analyze or mechanisms that are still unknown.
No. This proportion is typical when both are carriers of the same gene for an autosomal recessive condition. Other inheritance patterns require specific calculations and advice.
Reproductive planning
Talk to the team to understand which modality makes sense for you or the couple.
This content is informative and does not replace medical evaluation or genetic counseling. The panel composition, technical limitations and clinical interpretation must be confirmed in the order and report.
Catalog information
Screening for recessive conditions for a person, with assessment of carrier status.
AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACTA2, ACTC1, ACVRL1, ACOX1, ACOX2, ACSF3, 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, APOA5, APOB, APOC2, APC, APRT, AQP2, ARG1, ARL13B, ARL6, ARPC1B, ARSA, ARSB, ARX, ASCC3, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A4, ATP6V0A2, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AUH, AVPR2, B2M, B9D1, B9D2, BAG3, BAAT, 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, LMNA, LMBRD1, LMF1, 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, RC3H1, RD3, RDH12, RBM20, 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, TGFBR1, TGFBR2, TG, TGM1, TH, THAP11, THRA, TIRAP, TJP2, TK2, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM43, TMEM67, TMEM70, TNNC1, TNNI3, TNNT2, TNFSF11, 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
Definition of modality and pre-test guidance. The current gene list and the availability of additional analyzes must be confirmed in the request.
Being a carrier generally does not mean having the condition. The report presents the genes actually evaluated and the result does not eliminate the residual risk.
Catalog information
Screening for recessive conditions for the couple, with genetic compatibility assessment.
AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACTA2, ACTC1, ACVRL1, ACOX1, ACOX2, ACSF3, 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, APOA5, APOB, APOC2, APC, APRT, AQP2, ARG1, ARL13B, ARL6, ARPC1B, ARSA, ARSB, ARX, ASCC3, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A4, ATP6V0A2, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AUH, AVPR2, B2M, B9D1, B9D2, BAG3, BAAT, 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, LMNA, LMBRD1, LMF1, 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, RC3H1, RD3, RDH12, RBM20, 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, TGFBR1, TGFBR2, TG, TGM1, TH, THAP11, THRA, TIRAP, TJP2, TK2, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM43, TMEM67, TMEM70, TNNC1, TNNI3, TNNT2, TNFSF11, 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
Samples and pre-test guidance from both partners. Modality, current gene relationship and additional tests must be confirmed in the request.
Results in different genes may not increase the combined risk for the same condition; Each result remains subject to residual risk and individual interpretation.
