Carrier Screening, NGS - Expanded

1123 Gene List Carrier Panel

21 days

Next Generation Sequencing

Genelist (1123): AAAS, AARS2, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCB7, ABCC8, ABCD1, ABCD4, ABCG5, ABHD12, ABHD5, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACBD5, ACE, ACO2, ACOX1, ACSF3, ACTN4, ACY1, ACY3, ADA, ADAMTS13, ADAMTS18, ADAMTS2, ADAMTSL2, ADAT3, ADD3, ADGRG1, ADGRV1, ADPRHL2, AFG3L2, AGA, AGBL5, AGK, AGL, AGPAT2, AGPS, AGT, AGTR1, AGXT, AHI1, AICDA, AIFM1, AIPL1, AIRE, AK2, AKR1D1, ALDH18A1, ALDH1A3, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, AMACR, AMPD1, AMPD2, AMT, ANK3, ANO10, ANTXR2, AP3B1, AP4E1, AP4S1, APTX, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSL, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ATF6, ATM, ATP13A2, ATP5E, ATP5F1A, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATR, ATRX, AUH, AVPR2, B3GALNT2, B3GAT3, B4GALT1, B4GALT7, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BDP1, BLM, BLOC1S3, BLOC1S6, BMP1, BMPR1B, BRCA2, BRIP1, BSND, BTD, BTK, C12orf57, C19orf12, C1NH, C1QBP, C2orf69, C4B, C6, CA2, CA8, CAD, CANT1, CAPN3, CARS2, CAVIN1, CBS, CC2D2A, CCBE1, CCDC103, CCDC39, CCDC40, CCDC8, CCDC88C, CCN6, CD247, CD36, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CDH23, CDH3, CENPJ, CEP104, CEP290, CEP41, CERKL, CERS3, CFTR, CHAT, CHKB, CHM, CHMP1A, CHRNA1, CHRND, CHRNE, CHRNG, CHST6, CIB2, CISD2, CIT, CLCF1, CLCN1, CLCN5, CLCNKB, CLDN1, CLDN14, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CLRN2, CMOAT, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CNOT1, CNTN1, CNTNAP2, COASY, COG6, COL11A2, COL17A1, COL18A1, COL1A2, COL27A1, COL4A3, COL4A4, COL6A1, COL6A2, COL6A3, COL7A1, COL9A2, COLQ, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, COX10, COX15, COX20, CP, CPLANE1, CPS1, CPT1A, CPT2, CRB1, CRBN, CRLF1, CRLS1, CRTAP, CRX, CSF2RB, CSPP1, CSTB, CTC1, CTNS, CTSA, CTSD, CTSF, CTSK, CTU2, CUL7, CWC27, CYBA, CYBB, CYBC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, D2HGDH, DARS2, DBT, DCAF17, DCLRE1C, DCX, DDB2, DDC, DDR2, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DIAPH1, DKC1, DLAT, DLD, DLL3, DMD, DMP1, DNA2, DNAAF2, DNAH11, DNAH5, DNAI1, DNAJC19, DNAL1, DNMT3B, DOCK8, DOK7, DOLK, DONSON, DPAGT1, DPM1, DPYD, DRC1, DSP, DTNBP1, DYM, DYNC2H1, DYNLT2B, DYSF, EARS2, ECEL1, ECHS1, EDA, EDAR, EFEMP2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELP1, EMC10, EMD, ENPP1, EPCAM, EPG5, EPM2A, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ESPN, ESRRB, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOC7, EXOSC3, EXOSC9, EYS, F10, F11, F8, F9, FA2H, FAH, FAM126A, FAM161A, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FARS2, FASTKD2, FBLN5, FBP1, FBXL4, FCGR3A, FECH, FERMT3, FGD1, FGFR3, FH, FHL1, FIBP, FKBP10, FKRP, FKTN, FLNA, FLNB, FMO3, FMR1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, FXN, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATB, GATC, GATM, GBA1, GBE1, GCDH, GCK, GCSH, GDAP1, GDF5, GFM1, GFM2, GFPT1, GFRA1, GGCX, GIPC3, GJB2, GJB3, GJB6, GJC2, GLA, GLB1, GLDC, GLE1, GMPPA, GNAT2, GNE, GNPAT, GNPTAB, GNPTAG, GNPTG, GNS, GPHN, GPR56, GPR98, GPSM2, GPT2, GRHPR, GRIP1, GRM7, GRXCR1, GSS, GTF2H5, GTPBP3, GUCY2D, GUSB, HACD1, HADH, HADHA, HADHB, HAMP, HARS2, HAX1, HBA1, HBA2, HBB, HCFC1, HELLS, HESX1, HEXA, HEXB, HFE, HFE2, HGD, HGF, HGSNAT, HIBCH, HINT1, HJV, HLCS, HMGCL, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPG2, HYAL1, HYDIN, HYLS1, IBA57, IDS, IDUA, IFT140, IFT80, IGF1, IGFBP7, IGHMBP2, IKBKAP, IKBKB, IKBKG, IL2RA, IL2RG, IL7R, ILDR1, IMPG2, INPP5E, INPPL1, INSR, INVS, IPO8, IQCB1, ISCA2, ITGA2B, ITGA6, ITGB3, ITGB4, ITPA, IVD, JAG2, JAK3, JAM3, KANK1, KATNB1, KCNJ1, KCNJ10, KCNJ13, KCNQ1, KCNV2, KCTD7, KIF14, KIF7, KLHL40, L1CAM, LAMA2, LAMA3, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LARGE, LARP7, LARS, LARS1, LBR, LCA, LCA5, LCK, LDLR, LHFPL5, LHX3, LIAS, LIFR, LIG4, LINS1, LIPA, LIPE, LIPN, LMBRD1, LOXHD1, LOXL3, LPAR6, LPL, LRAT, LRP2, LRP5, LRPPRC, LRTOMT, LTBP1, LTBP3, LTBP4, LYRM4, LYST, MAGT1, MAK, MALT1, MAN1B1, MAN2B1, MANBA, MARS2, MARVELD2, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MECP2, MED12, MED17, MEFV, MEGF10, MEGF8, MEIF2, MERTK, MESP2, MET, METTL23, MFN2, MFSD8, MGAT2, MICOS13, MICU1, MID1, MIPEP, MKKS, MKS1, mLC1, mLH1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPDZ, MPI, MPL, MPRSS3, MPV17, MPZ, MRPL12, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MSH2, MTFMT, MTHFD1, MTHFR, MTM1, MTMR2, MTO1, MTPAP, MTRFR, MTRR, MTTP, MUSK, MUT, MVK, MYH11, MYO15A, MYO5A, MYO5B, MYO6, MYO7A, NAGA, NAGLU, NAGS, NALCN, NARS2, NBAS, NBN, NCF1, NCF2, NCF4, NCKAP1L, NDP, NDRG1, NDUFA1, NDUFA11, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEB, NEK2, NEU1, NEUROG3, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NIPAL4, NKX6-2, NMNAT1, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR2E3, NSUN2, NSUN3, NTRK1, NUBPL, NUP62, OAT, OBSL1, OCA2, OCLN, OCRL, ODAD2, ODAD3, OFD1, OPA3, ORAI1, OSTM1, OTC, OTOA, OTOF, OXCT1, P3H1, P3H2, PAH, PAK3, PANK2, PC, PCARE, PCBD1, PCCA, PCCB, PCDH15, PCNT, PCSK1, PDCN, PDE6A, PDE6G, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDZD8, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFC, PFKM, PGAP3, PGM1, PGM3, PHF6, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PJVK, PKHD1, PLA2G6, PLCB3, PLCE1, PLEC, PLEKHG5, PLG, PLOD1, PLOD2, PLP1, PMM2, PMP22, PNKP, PNLDC1, PNP, PNPLA1, PNPO, PNPT1, POLG, POLH, POLRMT, POMGNT1, POMT1, POMT2, POR, POU1F1, POU3F4, PPIB, PPP1R21, PPT1, PQBP1, PRCD, PRDM5, PRF1, PRG4, PRKDC, PRKG2, PRKN, PROC, PROP1, PRORP, PRPH2, PRPS1, PRX, PSAP, PTCD3, PTF1A, PTH1R, PTPRC, PTPRQ, PTS, PUS1, PYCR1, PYCR2, PYGM, QARS1, QDPR, QRSL1, RAB23, RAB27A, RAB3GAP1, RAB3GAP2, RAG1, RAG2, RAPSN, RARS1, RARS2, RBP3, RD3, RDH12, RDX, RECQL3, RECQL4, RELN, REN, RETREG1, RFX6, RIPK4, RLBP1, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROBO3, RP2, RPE65, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RRM2B, RS1, RSPH9, RTEL1, SACS, SAMHD1, SARS2, SBDS, SBF1, SC5D, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SDR9C7, SELENON, SEPN1, SEPSECS, SERAC1, SERPINA1, SERPINB8, SERPINF1, SFTPA1, SFTPB, SFXN4, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SH3TC2, SIL1, SKIV2L, SLC12A1, SLC12A3, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC26A2, SLC26A3, SLC26A4, SLC27A4, SLC2A10, SLC35A1, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC3A1, SLC45A1, SLC46A1, SLC4A11, SLC4A4, SLC5A7, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A6, SLURP1, SMARCAL1, SMN1, SMPD1, SNAP29, SNX10, SNX14, SP110, SPAG1, SPART, SPATA7, SPG11, SPG21, SPG7, SPINK5, SPINT2, SPTA1, SQSTM1, SRD5A2, SRD5A3, ST14, ST3GAL5, STAC3, STAR, STAT1, STAT5B, STK4, STRA6, STRC, STSK, STX11, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYNE4, SYNJ1, TAFAZZIN, TALDO1, TAMM41, TARS2, TAT, TBCE, TBX19, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TECTA, TEFM, TF, TFR2, TG, TGM1, TH, TIMM22, TIMM8A, TJP2, TK2, TMC1, TMC6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TMEM94, TNFRSF11A, TNFRSF11B, TNFSF11, TNNT1, TNR, TNXB, TPI1, TPK1, TPO, TPP1, TRAPPC11, TRAPPC6B, TREX1, TRIM32, TRIM37, TRIT1, TRMT10C, TRMU, TRPM1, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPYL1, TTC21B, TTC37, TTC7A, TTC8, TTLL5, TTN, TTPA, TUFM, TULP1, TWIST2, TWNK, TXN2, TYMP, TYR, UBA1, UBE3B, UBR1, UGP2, UGT1A1, UMPS, UNC13D, UNC80, UNG, UQCRQ, UROC1, UROS, USH1C, USH1G, USH2A, VDR, VLDLR, VPS13A, VPS13B, VPS33B, VPS45, VPS53, VRK1, VSX2, WAS, WASHC4, WDR19, WDR45B, WDR81, WFS1, WHRN, WLS, WNT1, WNT7A, WRN, WWOX, XPA, XPC, XYLT1, YARS2, ZAP70, ZBTB24, ZFYVE26, ZIC3, ZMPSTE24, ZMYND10, ZNF469, ZNF513, ZNF699

Accredited NRL Laboratory

Once a week

Expanded carrier screening for extensive genetic disorders; informed family planning.

Peripheral Blood

5-7 mL whole blood OR DNA ≥ 100 µL

Lavender-top (EDTA) tube

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.