Genes:
AAAS, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCC8, ABCD4, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, ADGRV1, ADK, AGA, AGL, AGPAT2, AGPS, AGXT, AHCY, AHI1, AIMP1, AIPL1, AIRE, AK2, AKR1D1, ALDH3A2, ALDH4A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG3, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMH, AMHR2, AMN, AMPD2, AMT, ANO10, ANO5, ANTXR2, AP1S1, AP3B1, AP3D1, APOPT1, AQP2, ARG1, ARL13B, ARL6, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7B, ATP8B1, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BMPER, BRIP1, BSND, BTD, C19orf12, C8orf37, CAD, CANT1, CAPN3, CASP14, CASQ2, CASR, CAVIN1, CBS, CC2D1A, CC2D2A, CCDC103, CCDC151, CCDC39, CCDC8, CCDC88C, CD247, CD3D, CD3E, CD3G, CD59, CD8A, CDAN1, CDCA7, CDH23, CEP104, CEP152, CEP290, CERKL, CERS3, CFTR, CHAT, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCNKB, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNTNAP2, COASY, COL11A2, COL17A1, COL27A1, COL4A3, COL4A4, COL7A1, COLQ, COQ4, CORO1A, COX10, COX15, COX20, COX6B1, CP, CPLANE1, CPS1, CPT1A, CPT2, CRADD, CRB1, CRLF1, CRTAP, CRYL1, CTC1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUL7, CWC27, CYBA, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DDB2, DDC, DDR2, DDX11, DGUOK, DHCR24, DHCR7, DHDDS, DLAT, DLD, DLL3, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3B, DOCK8, DOK7, DOLK, DPYD, DTNBP1, DUOX2, DUOXA2, DYNC2H1, DYSF, EFEMP2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EPB42, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYS, F11, F2, F5, F7, FA2H, FAH, FAM126A, FAM161A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBP1, FBXL4, FH, FKBP10, FKRP, FKTN, FMO3, FOLR1, FOXN1, FOXRED1, FRAS1, FREM2, FTCD, FUCA1, FXN, G6PC, G6PC3, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATM, GBA, GBE1, GCDH, GDAP1, GDF5, GFM1, GFPT1, GHR, GHRHR, GJB2, GJB6, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNRHR, GNS, GORAB, GP1BA, GP9, GRHPR, GRIP1, GSS, GUCY2D, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HELLS, HEXA, HEXB, HFE, HGD, HGSNAT, HINT1, HJV, HLCS, HMGCL, HMGCS2, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HYAL1, HYLS1, IDH3B, IDUA, IFT140, IGHMBP2, IKBKB, IL2RA, IL7R, INPP5E, INVS, ITGA2B, ITGA6, ITGB3, ITGB4, ITPA, IVD, IYD, JAK3, KCNJ1, KCNJ11, KCTD7, KIF14, LAMA2, LAMA3, LAMB3, LAMC2, LARS, LCA5, LCK, LDLR, LDLRAP1, LHCGR, LHX3, LIFR, LIG4, LIPA, LIPN, LMAN1, LMBRD1, LOXHD1, LPAR6, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MEGF8, MESP2, MFSD8, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MPI, MPL, MPV17, MRE11, MTHFD1, MTHFR, MTMR2, MTR, MTRR, MTTP, MUT, MVK, MYO15A, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBEAL2, NBN, NCF2, NCF4, NDRG1, NDUFA11, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR2E3, NTRK1, OAT, OBSL1, OCA2, OPA3, OSTM1, OTOF, P3H1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PCNT, PDE6A, PDHB, PDHX, PDP1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM3, PHGDH, PHKB, PHKG2, PHYH, PIGN, PIP5K1C, PJVK, PKHD1, PLA2G6, PLEKHG5, PLOD1, PLOD2, PMM2, PNP, PNPLA1, PNPO, POC1A, POLG, POLH, POLR1C, POMGNT1, POMT1, POMT2, POR, POU1F1, PPIB, PPT1, PRCD, PRDM5, PRF1, PRICKLE1, PRKDC, PROP1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGL, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RAX, RD3, RDH12, RDH5, RFX5, RFXANK, RFXAP, RHAG, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPE65, RPGRIP1, RPGRIP1L, RSPH9, RTEL1, SACS, SAG, SAMD9, SAMHD1, SARS2, SBDS, SCO1, SCO2, SDCCAG8, SDR9C7, SEC23B, SELENON, SEPSECS, SERPINA1, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SH3TC2, SKIV2L, SLC12A1, SLC12A3, SLC12A6, SLC17A5, SLC19A2, SLC19A3, SLC1A4, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A3, SLC26A4, SLC27A4, SLC2A10, SLC2A2, SLC34A3, SLC35A3, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC46A1, SLC4A1, SLC4A11, SLC5A5, SLC6A19, SLC7A7, SLC7A9, SMARCAL1, SMN1, SMPD1, SNAP29, SNX10, SP110, SPATA7, SPG11, SPG21, SPG7, SPINK5, SPR, SRD5A2, ST3GAL5, STAR, STK4, STX11, STXBP2, SUCLA2, SUMF1, SUOX, SURF1, SYNE4, TAT, TBCE, TBX19, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TERT, TF, TFR2, TG, TGM1, TH, TK2, TMC1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TMPRSS3, TNFSF11, TNXB, TPO, TPP1, TRAPPC11, TRDN, TREX1, TRHR, TRIM32, TRIM37, TRMU, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TTC37, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, TYRP1, UGT1A1, UNC13D, USH1C, USH1G, USH2A, VDR, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, VSX2, WHRN, WISP3, WNT1, WNT10A, WRN, XPA, XPC, ZAP70, ZBTB24, ZFYVE26, ZNF469
( 714 genes )
Detection Rate:
~99% @ 20x
Coverage:
98% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)