Inheritest® 500 PLUS Panel

TEST: 481893
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CPT: Contact CPT coding department at 800-222-7566, ext. 6-8400.
Updated on 07/22/2024
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Synonyms

  • Carrier screening
  • Expanded carrier testing
  • Pan-ethnic carrier screening

Test Includes

This test includes the following genes: AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, ADGRV1, AGA, AGL, AGPAT2, AGPS, AGXT, AHI1, AICDA, AIPL1, AIRE, AK2, ALDH3A2, ALDH7A1, ALDOB, ALG1, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMPD2, AMT, ANO10, ANTXR2, AP3B1, ARG1, ARL13B, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BRIP1, BSND, BTD, BTK, C19orf12, CAD, CAPN3, CAVIN1, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CDH23, CEP104, CEP290, CERKL, CERS3, CFTR, CHAT, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGB1, CNGB3, CNTNAP2, COASY, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, CORO1A, CP, CPLANE1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CTC1, CTNS, CTSA, CTSD, CTSF, CTSK, CUL7, CWC27, CYBA, CYBB, CYP11A1, CYP11B1, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DDB2, DDC, DHCR7, DHDDS, DLD, DMD, DNMT3B, DOCK8, DOK7, DPYD, DTNBP1, DYNC2H1, DYSF, EDA, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F9, FA2H, FAH, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXL4, FHL1, FKBP10, FKRP, FKTN, FMO3, FMR1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, G6PC1, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCDH, GFM1, GFPT1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPHN, GRHPR, GRIP1, GSS, GUSB, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HELLS, HEXA, HEXB, HGSNAT, HINT1, HJV, HLCS, HMGCL, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IFT140, IKBKB, IL2RA, IL2RG, IL7R, INPP5E, ITPA, IVD, JAK3, KCNJ1, KCTD7, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LARS1, LCA5, LCK, LHX3, LIFR, LIG4, LIPA, LIPN, LMBRD1, LOXHD1, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MTHFD1, MTM1, MTRR, MTTP, MVK, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, OSTM1, OTC, OTOF, P3H1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PKHD1, PLA2G6, PLEKHG5, PLOD2, PLP1, PMM2, PNP, PNPLA1, PNPO, POLG, POLH, POMGNT1, POMT1, POMT2, POR, POU3F4, PPIB, PPT1, PRCD, PRDM5, PRF1, PRKDC, PROP1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RD3, RDH12, RFX5, RFXANK, RFXAP, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RS1, SACS, SAMHD1, SCO2, SDCCAG8, SDR9C7, SELENON, SEPSECS, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SKIV2L, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A4, SLC27A4, SLC2A10, SLC35A3, SLC37A4, SLC39A4, SLC46A1, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMPD1, SP110, SPATA7, SPG11, SPG21, STAR, STK4, STX11, STXBP2, SUMF1, SUOX, SURF1, SYNE4, TAT, TAFAZZIN, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TF, TGM1, TH, TK2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TNFSF11, TNXB, TPP1, TRAPPC11, TRIM32, TRMU, TSEN2, TSEN34, TSEN54, TSFM, TTC37, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, UNC13D, UNG, USH1C, USH1G, USH2A, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WNT1, WRN, XPA, XPC, ZAP70, ZBTB24 and ZNF469.

This test includes the following genes: AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, ADGRV1, AGA, AGL, AGPAT2, AGPS, AGXT, AHI1, AICDA, AIPL1, AIRE, AK2, ALDH3A2, ALDH7A1, ALDOB, ALG1, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMPD2, AMT, ANO10, ANTXR2, AP3B1, ARG1, ARL13B, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BRIP1, BSND, BTD, BTK, C19orf12, CAD, CAPN3, CAVIN1, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CDH23, CEP104, CEP290, CERKL, CERS3, CFTR, CHAT, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGB1, CNGB3, CNTNAP2, COASY, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, CORO1A, CP, CPLANE1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CTC1, CTNS, CTSA, CTSD, CTSF, CTSK, CUL7, CWC27, CYBA, CYBB, CYP11A1, CYP11B1, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DDB2, DDC, DHCR7, DHDDS, DLD, DMD, DNMT3B, DOCK8, DOK7, DPYD, DTNBP1, DYNC2H1, DYSF, EDA, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F9, FA2H, FAH, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXL4, FHL1, FKBP10, FKRP, FKTN, FMO3, FMR1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, G6PC1, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCDH, GFM1, GFPT1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPHN, GRHPR, GRIP1, GSS, GUSB, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HELLS, HEXA, HEXB, HGSNAT, HINT1, HJV, HLCS, HMGCL, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IFT140, IKBKB, IL2RA, IL2RG, IL7R, INPP5E, ITPA, IVD, JAK3, KCNJ1, KCTD7, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LARS1, LCA5, LCK, LHX3, LIFR, LIG4, LIPA, LIPN, LMBRD1, LOXHD1, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MTHFD1, MTM1, MTRR, MTTP, MVK, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, OSTM1, OTC, OTOF, P3H1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PKHD1, PLA2G6, PLEKHG5, PLOD2, PLP1, PMM2, PNP, PNPLA1, PNPO, POLG, POLH, POMGNT1, POMT1, POMT2, POR, POU3F4, PPIB, PPT1, PRCD, PRDM5, PRF1, PRKDC, PROP1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RD3, RDH12, RFX5, RFXANK, RFXAP, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RS1, SACS, SAMHD1, SCO2, SDCCAG8, SDR9C7, SELENON, SEPSECS, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SKIV2L, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A4, SLC27A4, SLC2A10, SLC35A3, SLC37A4, SLC39A4, SLC46A1, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMPD1, SP110, SPATA7, SPG11, SPG21, STAR, STK4, STX11, STXBP2, SUMF1, SUOX, SURF1, SYNE4, TAT, TAFAZZIN, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TF, TGM1, TH, TK2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TNFSF11, TNXB, TPP1, TRAPPC11, TRIM32, TRMU, TSEN2, TSEN34, TSEN54, TSFM, TTC37, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, UNC13D, UNG, USH1C, USH1G, USH2A, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WNT1, WRN, XPA, XPC, ZAP70, ZBTB24 and ZNF469.

This test includes the following genes: AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, ADGRV1, AGA, AGL, AGPAT2, AGPS, AGXT, AHI1, AICDA, AIPL1, AIRE, AK2, ALDH3A2, ALDH7A1, ALDOB, ALG1, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMPD2, AMT, ANO10, ANTXR2, AP3B1, ARG1, ARL13B, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BRIP1, BSND, BTD, BTK, C19orf12, CAD, CAPN3, CAVIN1, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CDH23, CEP104, CEP290, CERKL, CERS3, CFTR, CHAT, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGB1, CNGB3, CNTNAP2, COASY, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, CORO1A, CP, CPLANE1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CTC1, CTNS, CTSA, CTSD, CTSF, CTSK, CUL7, CWC27, CYBA, CYBB, CYP11A1, CYP11B1, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DDB2, DDC, DHCR7, DHDDS, DLD, DMD, DNMT3B, DOCK8, DOK7, DPYD, DTNBP1, DYNC2H1, DYSF, EDA, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F9, FA2H, FAH, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXL4, FHL1, FKBP10, FKRP, FKTN, FMO3, FMR1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, G6PC1, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCDH, GFM1, GFPT1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPHN, GRHPR, GRIP1, GSS, GUSB, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HELLS, HEXA, HEXB, HGSNAT, HINT1, HJV, HLCS, HMGCL, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IFT140, IKBKB, IL2RA, IL2RG, IL7R, INPP5E, ITPA, IVD, JAK3, KCNJ1, KCTD7, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LARS1, LCA5, LCK, LHX3, LIFR, LIG4, LIPA, LIPN, LMBRD1, LOXHD1, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MTHFD1, MTM1, MTRR, MTTP, MVK, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, OSTM1, OTC, OTOF, P3H1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PKHD1, PLA2G6, PLEKHG5, PLOD2, PLP1, PMM2, PNP, PNPLA1, PNPO, POLG, POLH, POMGNT1, POMT1, POMT2, POR, POU3F4, PPIB, PPT1, PRCD, PRDM5, PRF1, PRKDC, PROP1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RD3, RDH12, RFX5, RFXANK, RFXAP, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RS1, SACS, SAMHD1, SCO2, SDCCAG8, SDR9C7, SELENON, SEPSECS, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SKIV2L, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A4, SLC27A4, SLC2A10, SLC35A3, SLC37A4, SLC39A4, SLC46A1, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMPD1, SP110, SPATA7, SPG11, SPG21, STAR, STK4, STX11, STXBP2, SUMF1, SUOX, SURF1, SYNE4, TAT, TAFAZZIN, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TF, TGM1, TH, TK2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TNFSF11, TNXB, TPP1, TRAPPC11, TRIM32, TRMU, TSEN2, TSEN34, TSEN54, TSFM, TTC37, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, UNC13D, UNG, USH1C, USH1G, USH2A, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WNT1, WRN, XPA, XPC, ZAP70, ZBTB24 and ZNF469.

This test includes the following genes: AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, ADGRV1, AGA, AGL, AGPAT2, AGPS, AGXT, AHI1, AICDA, AIPL1, AIRE, AK2, ALDH3A2, ALDH7A1, ALDOB, ALG1, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMPD2, AMT, ANO10, ANTXR2, AP3B1, ARG1, ARL13B, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BRIP1, BSND, BTD, BTK, C19orf12, CAD, CAPN3, CAVIN1, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CDH23, CEP104, CEP290, CERKL, CERS3, CFTR, CHAT, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGB1, CNGB3, CNTNAP2, COASY, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, CORO1A, CP, CPLANE1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CTC1, CTNS, CTSA, CTSD, CTSF, CTSK, CUL7, CWC27, CYBA, CYBB, CYP11A1, CYP11B1, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DDB2, DDC, DHCR7, DHDDS, DLD, DMD, DNMT3B, DOCK8, DOK7, DPYD, DTNBP1, DYNC2H1, DYSF, EDA, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F9, FA2H, FAH, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXL4, FHL1, FKBP10, FKRP, FKTN, FMO3, FMR1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, G6PC1, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCDH, GFM1, GFPT1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPHN, GRHPR, GRIP1, GSS, GUSB, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HELLS, HEXA, HEXB, HGSNAT, HINT1, HJV, HLCS, HMGCL, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IFT140, IKBKB, IL2RA, IL2RG, IL7R, INPP5E, ITPA, IVD, JAK3, KCNJ1, KCTD7, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LARS1, LCA5, LCK, LHX3, LIFR, LIG4, LIPA, LIPN, LMBRD1, LOXHD1, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MTHFD1, MTM1, MTRR, MTTP, MVK, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, OSTM1, OTC, OTOF, P3H1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PKHD1, PLA2G6, PLEKHG5, PLOD2, PLP1, PMM2, PNP, PNPLA1, PNPO, POLG, POLH, POMGNT1, POMT1, POMT2, POR, POU3F4, PPIB, PPT1, PRCD, PRDM5, PRF1, PRKDC, PROP1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RD3, RDH12, RFX5, RFXANK, RFXAP, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RS1, SACS, SAMHD1, SCO2, SDCCAG8, SDR9C7, SELENON, SEPSECS, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SKIV2L, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A4, SLC27A4, SLC2A10, SLC35A3, SLC37A4, SLC39A4, SLC46A1, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMPD1, SP110, SPATA7, SPG11, SPG21, STAR, STK4, STX11, STXBP2, SUMF1, SUOX, SURF1, SYNE4, TAT, TAFAZZIN, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TF, TGM1, TH, TK2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TNFSF11, TNXB, TPP1, TRAPPC11, TRIM32, TRMU, TSEN2, TSEN34, TSEN54, TSFM, TTC37, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, UNC13D, UNG, USH1C, USH1G, USH2A, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WNT1, WRN, XPA, XPC, ZAP70, ZBTB24 and ZNF469.

This test includes the following genes: AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, ADGRV1, AGA, AGL, AGPAT2, AGPS, AGXT, AHI1, AICDA, AIPL1, AIRE, AK2, ALDH3A2, ALDH7A1, ALDOB, ALG1, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMPD2, AMT, ANO10, ANTXR2, AP3B1, ARG1, ARL13B, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BRIP1, BSND, BTD, BTK, C19orf12, CAD, CAPN3, CAVIN1, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CDH23, CEP104, CEP290, CERKL, CERS3, CFTR, CHAT, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGB1, CNGB3, CNTNAP2, COASY, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, CORO1A, CP, CPLANE1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CTC1, CTNS, CTSA, CTSD, CTSF, CTSK, CUL7, CWC27, CYBA, CYBB, CYP11A1, CYP11B1, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DDB2, DDC, DHCR7, DHDDS, DLD, DMD, DNMT3B, DOCK8, DOK7, DPYD, DTNBP1, DYNC2H1, DYSF, EDA, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F9, FA2H, FAH, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXL4, FHL1, FKBP10, FKRP, FKTN, FMO3, FMR1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, G6PC1, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCDH, GFM1, GFPT1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPHN, GRHPR, GRIP1, GSS, GUSB, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HELLS, HEXA, HEXB, HGSNAT, HINT1, HJV, HLCS, HMGCL, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IFT140, IKBKB, IL2RA, IL2RG, IL7R, INPP5E, ITPA, IVD, JAK3, KCNJ1, KCTD7, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LARS1, LCA5, LCK, LHX3, LIFR, LIG4, LIPA, LIPN, LMBRD1, LOXHD1, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MTHFD1, MTM1, MTRR, MTTP, MVK, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, OSTM1, OTC, OTOF, P3H1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PKHD1, PLA2G6, PLEKHG5, PLOD2, PLP1, PMM2, PNP, PNPLA1, PNPO, POLG, POLH, POMGNT1, POMT1, POMT2, POR, POU3F4, PPIB, PPT1, PRCD, PRDM5, PRF1, PRKDC, PROP1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RD3, RDH12, RFX5, RFXANK, RFXAP, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RS1, SACS, SAMHD1, SCO2, SDCCAG8, SDR9C7, SELENON, SEPSECS, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SKIV2L, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A4, SLC27A4, SLC2A10, SLC35A3, SLC37A4, SLC39A4, SLC46A1, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMPD1, SP110, SPATA7, SPG11, SPG21, STAR, STK4, STX11, STXBP2, SUMF1, SUOX, SURF1, SYNE4, TAT, TAFAZZIN, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TF, TGM1, TH, TK2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TNFSF11, TNXB, TPP1, TRAPPC11, TRIM32, TRMU, TSEN2, TSEN34, TSEN54, TSFM, TTC37, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, UNC13D, UNG, USH1C, USH1G, USH2A, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WNT1, WRN, XPA, XPC, ZAP70, ZBTB24 and ZNF469.

Special Instructions

Males are not tested for x-linked disorders, including fragile X syndrome.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Males are not tested for x-linked disorders, including fragile X syndrome.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Males are not tested for x-linked disorders, including fragile X syndrome.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Males are not tested for x-linked disorders, including fragile X syndrome.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Males are not tested for x-linked disorders, including fragile X syndrome.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Expected Turnaround Time

14 - 21 days (In some cases, additional time may be required for confirmatory or reflex tests.)

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS

    Specimen Requirements

    Specimen

    Whole blood or Oragene Dx 500 saliva kit

    Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit

    Whole blood or Oragene Dx 500 saliva ki or Oragene Dx 500 saliva kit

    Volume

    8.5 mL whole blood or Oragene Dx saliva kit

    8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

    8.5 mL whole blood or Oragene Dx saliva ki or Oragene Dx saliva kit

    Minimum Volume

    3 mL whole blood or Oragene Dx saliva kit

    Container

    Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or Oragene Dx 500 saliva collection kit

    Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

    Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or Oragene Dx 500 saliva collection ki or Oragene Dx 500 saliva collection kit

    Collection

    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.

    Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.

    Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.

    Storage Instructions

    Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

    Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

    Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

    Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

    Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

    Stability Requirements

    Whole blood: 4 days at room temperature or 4°C

    Saliva: 60 days at room temperature

    Whole blood: 4 days at room temperature or 4°C

    Buccal: 60 days at room temperature

    Saliva: 60 days at room temperature

    Whole blood: 4 days at room temperature or 4°C

    Saliva: 60 days at room temperature

    Saliva: 60 days at room temperature

    Causes for Rejection

    Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container or blood specimens more than four days post draw

    Test Details

    Use

    This test is used for pan-ethnic carrier screening and includes more than 500 clinically relevant genetic disorders, including all the genes in the 14-Gene, 100 PLUS and 300 PLUS panels.

    This test is used for pan-ethnic carrier screening and includes more than 500 clinically relevant genetic disorders, including all the genes in the 14-Gene, 100 PLUS and 300 PLUS panels.

    This test is used for pan-ethnic carrier screening and includes more than 500 clinically relevant genetic disorders, including all the genes in the 14-Gene, 100 PLUS and 300 PLUS panels.

    This test is used for pan-ethnic carrier screening and includes more than 500 clinically relevant genetic disorders, including all the genes in the 14-Gene, 100 PLUS and 300 PLUS panels.

    This test is used for pan-ethnic carrier screening and includes more than 500 clinically relevant genetic disorders, including all the genes in the 14-Gene, 100 PLUS and 300 PLUS panels.

    Limitations

    Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

    Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

    This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

    Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

    Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

    This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

    Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

    Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

    This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

    Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

    Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

    This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

    Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

    Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

    This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

    Methodology

    Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

    Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).

    Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.

    Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

    Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).

    Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.

    Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

    Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).

    Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.

    Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

    Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).

    Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.

    Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

    Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).

    Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.

    References

    Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806.34285390
    Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806.34285390
    Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806.34285390
    Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806.34285390
    Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806.34285390

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    481893 Inheritest 500 PLUS Panel 481875 Genes 48018-6
    481893 Inheritest 500 PLUS Panel 481876 Ethnicity 46463-6
    481893 Inheritest 500 PLUS Panel 481877 Specimen Type 31208-2
    481893 Inheritest 500 PLUS Panel 481878 Genetic Counselor 89993-0
    481893 Inheritest 500 PLUS Panel 481879 Indication 42349-1
    481893 Inheritest 500 PLUS Panel 481880 Result: 19102-3
    481893 Inheritest 500 PLUS Panel 481881 Interpretation 53039-4
    481893 Inheritest 500 PLUS Panel 481882 General Comments 8262-8
    481893 Inheritest 500 PLUS Panel 481883 Recommendations 62385-0
    481893 Inheritest 500 PLUS Panel 481884 Additional ClinicalInformation 55752-0
    481893 Inheritest 500 PLUS Panel 481885 Comments 8251-1
    481893 Inheritest 500 PLUS Panel 481886 Methods/Limitations 49549-9
    481893 Inheritest 500 PLUS Panel 481887 References 75608-0
    481893 Inheritest 500 PLUS Panel 481888 Disorders Tested 19102-3
    481893 Inheritest 500 PLUS Panel 481889 Director Review/Release 72486-4
    481893 Inheritest 500 PLUS Panel 481890 PDF 51969-4
    481893 Inheritest 500 PLUS Panel 481892 Patient Gender 76691-5
    Reflex Table for Patient Gender
    Order Code Order Name Result Code Result Name UofM Result LOINC
    Reflex 1 482148 INH 500 PLUS + Fragile X 482146 INH 500 PLUS NGSBC N/A
    Reflex Table for Patient Gender
    Order Code Order Name Result Code Result Name UofM Result LOINC
    Reflex 1 482148 INH 500 PLUS + Fragile X 482147 FRAXBC N/A
    Reflex Table for Patient Gender
    Order Code Order Name Result Code Result Name UofM Result LOINC
    Reflex 1 482149 INH 500 PLUS NGSBC 482149 INH 500 PLUS NGSBC N/A

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