Sample Type

• Blood

Variant Types:

• Single Nucleotide Variants (SNVs).

• Small Insertions and Deletions (Indels ≤  20bp)

Turnaround Time (TAT):

• ~ 4 weeks

Gene List:

ABCA12, ABCA4, ABCB11, ABCB4, ABCC8, ABCD1, ABCG5, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ADA, ADAMTS10, ADAMTS17, ADAMTS2, ADGRV1, ADK, AGA, AGL, AGPS, AGXT, AHCY, AHI1, AIFM1, AIRE, ALDH3A2, ALDOB, ALG1, ALG12, ALG3, ALG6, ALG8, ALMS1, ALOX12B, ALOXE3, ALPL, AMT, ANO5, ANOS1, ANTXR2, AP3B1, AQP2, AR, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSL, ARX, ASL, ASPA, ASPM, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, AVPR2, B3GALT6, B3GLCT, B4GALT1, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BCKDHA, BCKDHB, BCS1L, BLM, BMPR1B, BSND, BTD, BTK, CAPN3, CBS, CC2D2A, CCDC39, CCDC40, CCDC88C, CD40LG, CDC6, CDH23, CDT1, CEP152, CEP290, CFTR, CHAT, CHRNE, CISD2, CLCN1, CLCN5, CLCNKB, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, COG5, COG6, COL17A1, COL1A2, COL4A3, COL4A4, COL6A3, COL7A1, COLQ, CPLANE1, CPS1, CPT1A, CPT2, CRB1, CRPPA, CRTAP, CSPP1, CTNS, CTSD, CYBA, CYBB, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, CYP27A1, CYP27B1, CYP2R1, DBT, DCLRE1C, DHCR7, DKC1, DLD, DMD, DMP1, DNAH11, DNAH5, DNAI1, DNAJC19, DOK7, DONSON, DPAGT1, DPM1, DYNC2H1, DYSF, EDA, EIF2B5, ELP1, EMD, ENPP1, EPS8L2, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYS, F10, F11, F13A1, F13B, F5, F9, FAH, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FH, FKRP, FKTN, FMO3, FOXI1, FRAS1, FREM2, FUCA1, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCDH, GCH1, GDAP1, GDF5, GH1, GHR, GHRHR, GHSR, GJB2, GJB3, GJB6, GLA, GLB1, GLDC, GNPAT, GNPTAB, GNPTG, GNS, GPR143, GRHPR, GRIA3, GRIP1, GUCY2D, GUSB, HADH, HADHA, HADHB, HARS1, HAX1, HBA1, HBA2, HBB, HEPACAM, HEXA, HEXB, HGD, HGSNAT, HLCS, HMGCL, HMGCS2, HPD, HPS1, HPS3, HSD17B3, HSD3B2, HTRA2, HYAL1, IDS, IDUA, IFT172, IL10RA, IL10RB, IL2RG, IL7R, INPP5E, ITGA6, ITGB4, IVD, JAK3, KCNE1, KCNJ1, KCNJ10, KCNJ11, KCNQ1, KIAA0586, KRT14, KRT5, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LARGE1, LDLRAP1, LHX3, LIPA, LMBRD1, LOXHD1, LRP2, LTBP2, LYST, MAN2B1, MCCC1, MCCC2, MCEE, MCM5, MCOLN1, MCPH1, MEFV, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MT-RNR1, MTM1, MTR, MTRR, MVK, MYO15A, MYO7A, NADK2, NAGA, NAGLU, NAGS, NBN, NCF2, NCF4, NDP, NEB, NEK1, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NPR2, NR0B1, NR1H4, NSMCE2, NSUN2, NTRK1, OAT, OCA2, OCRL, OFD1, OPA3, ORC1, ORC4, ORC6, OTC, OTOF, PAH, PCBD1, PCCA, PCCB, PCDH15, PDE6A, PDE6B, PDZD7, PEX1, PEX10, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PHKA1, PHKA2, PHKB, PHKG2, PJVK, PKHD1, PLD1, PLEC, PLOD1, PLP1, PMM2, POLG, POLH, POLR3A, POMGNT1, POMT1, POMT2, POU1F1, POU3F4, PPT1, PRDX1, PRF1, PRKG2, PROP1, PSAP, PTH1R, PTPRC, PTS, PYGL, PYGM, QDPR, RAG1, RAG2, RAPSN, RARS2, RDH12, RFT1, RNASEH2B, RNASEH2C, RPE65, RPGRIP1, RPGRIP1L, RS1, SBDS, SCO2, SERAC1, SERPINA1, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SHOX, SLC12A1, SLC12A3, SLC12A6, SLC19A2, SLC19A3, SLC22A5, SLC24A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC26A2, SLC26A4, SLC34A3, SLC35C1, SLC37A4, SLC39A13, SLC45A2, SLC6A8, SMARCAL1, SMN1, SMPD1, SPINK5, SPR, SRD5A3, STAR, STRC, STS, STX11, STXBP2, TAFAZZIN, TAT, TBC1D24, TCIRG1, TECTA, TGM1, TH, TIMM8A, TJP2, TMC1, TMEM165, TMEM216, TMEM67, TMPRSS3, TNXB, TPK1, TPP1, TREX1, TRIM37, TRIP11, TTN, TYR, TYRP1, UNC13D, USH1C, USH1G, USH2A, VDR, VPS13B, WAS, WDR62, WFS1, WHRN, WNT10A, XIAP, XPA, XPC, XRCC4