A2M, AAAS, AANAT1, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA7, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACAT1, ACE, ACER3, ACKR1, ACO2, ACOX1, ACSF3, ACSL4, ACTA2, ACTAT1, ACTB, ACTG1, ACVRL1, ACY1, ADAM10, ADAR, ADCK3, ADCY5, ADGRG1, ADGRV1, ADK, ADNP, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGRN, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX5AP, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMMECR1, AMN, AMPD1, AMPD2, AMT, ANG, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANO5, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARL6IP1, ARNT1, ARSA, ARSB, ARSE, ARSI, ARV1, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATAD3A, ATCAY, ATIC, ATL1, ATL3, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2B4, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, AUH, AUTS2, B3GALNT2, B3GLCT, B4GALNT1, B4GAT1, B4GLAT1, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCORL1, BCS1L, BDNF, BEAN1, BEST1, BICD2, BIN1, BLOC1S3, BLOC1S6, BMP4, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, BTD, BVES, C12ORF57, C12ORF65, C19ORF12, C9ORF72, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNA1H, CACNA1S, CACNA2D2, CACNB4, CACNG2, CAMTA1, CAPN1, CAPN3, CARS2, CASC5, CASK, CASR, CAV3, CBL, CC2D1A, CC2D2A, CCDC22, CCDC28B, CCDC78, CCDC88A, CCDC88C, CCM2, CCND2, CCT5, CD207, CD320, CD36, CD59, CD96, CDH15, CDK11A, CDK5RAP2, CDKL5, CDKN1C, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CERS1, CFL2, CHAT, CHCHD10, CHCHD2, CHD2, CHD7, CHD8, CHKB, CHMP1A, CHMP2B, CHN1, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHSY1, CISD2, CISH, CIT, CIZ1, CLCN1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CNBP, CNKSR2, CNOT3, CNTN1, CNTN6, CNTNAP2, CNTNAP4, COA5, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL12A1, COL18A1, COL4A1, COL4A2, COL4A3BP, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CP2, CPA6, CPLANE1, CPLX1, CPOX, CPT2, CR1, CRBN, CREBBP, CRYAB, CSF1R, CSF2RB, CSNK2A1, CSPP1, CST3, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTFD, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYP11B2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCAF8, DCHS1, DCTN1, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DHFR, DHH, DHTKD1, DIAPH1, DIAPH3, DIS3L2, DISP1, DKC1, DLAT, DLD, DLG3, DLL1, DLL4, DMD, DNAH9, DNAJB2, DNAJB6, DNAJC19, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DRD2, DRD3, DSC3, DST, DTNBP1, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBF3, EBP, ECHS1, ECM1, EDN3, EDNRB, EED, EEF1A2, EEF2, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4E, EIF4G1, ELK1, ELOVL4, ELOVL5, ELP1, EMD, EMX2, EN2, ENO3, ENTPD1, EOGT, EOMES, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC8, EXOSC3, EXOSC8, EZH2, F2, F5, FA2H, FADD, FAM126A, FAM134B, FANCB, FAR1, FARS2, FASTKD2, FAT4, FBLN5, FBXL4, FBXO38, FBXO7, FCGR2B, FECH, FGA, FGD1, FGD4, FGF10, FGF12, FGF14, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNC, FLRT1, FLVCR1, FLVCR2, FMR1, FOLR1, FOXC1, FOXG1, FOXH1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRG1, FRMD7, FRMPD4, FRRS1L, FTCD, FTL, FTO, FTSJ1, FUS, FXN, FZD9, GAA, GABBR2, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GAMT, GAN, GARS, GAS1, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFPT1, GIGYF2, GJA1, GJB1, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUL, GLYCTK, GM2A, GMPPB, GNAL, GNAO1, GNB1, GNB4, GNE, GNPAT, GNS, GOSR2, GP1BA, GPC3, GPHN, GPR143, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRM7, GRN, GSS, GTPBP3, GUF1, GUSB, GYG1, GYS1, HACE1, HADHA, HADHB, HAL, HARS1, HARS2, HCCS, HCFC1, HCN1, HCN4, HDAC4, HDAC6, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HINT1, HIVEP2, HK1, HMBS, HMGB3, HMGCS2, HNRNP2B1, HNRNPA1, HNRNPDL, HNRNPH2, HNRNPU, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYAL1, IBA57, ICAM1, ICK, IDS, IDUA, IER3IP1, IFIH1, IFRD1, IFT140, IFT172, IFT27, IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IL11RA, IL1RAPL1, IL1RN, INF2, INPP5E, INS, IQSEC2, IRX5, ISCA2, ISCU, ISPD, ITGA7, ITM2B, ITPA, ITPR1, JMJD1C, JRK, KANK1, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNE1L, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0586, KIF11, KIF1A, KIF1B, KIF1BP, KIF1C, KIF21A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KLF8, KLHL15, KLHL40, KLHL41, KMT2A, KMT2B, KMT2D, KMT5B, KNL1, KPTN, KRAS, KRIT1, KRT5, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE, LARGE1, LARS2, LAS1L, LBR, LDB3, LDHA, LETM1, LGI1, LHX4, LIAS, LIG4, LIMS2, LINS1, LIPT1, LITAF, LMBRD1, LMNA, LMNB1, LMNB2, LMOD3, LPIN1, LPIN2, LRP2, LRP4, LRPPRC, LRRK2, LRSAM1, LYRM7, LYZ, LZTFL1, MAG, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAOA, MAP2K1, MAPK10, MAPT, MARS1, MARS2, MASP1, MAT1A, MATR3, MBD5, MBTPS2, MCEE, MCM3AP, MCOLN1, MCPH1, MCPH2, MECP2, MECR, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEGF10, MET, MFN2, MFSD2A, MFSD8, MGAT2, MICU1, MID1, MID2, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MME, MOCS1, MOCS2, MOGS, MORC2, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11, MRPL44, MRPS22, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MTTP, MUSK, MUT, MVK, MYCN, MYF6, MYH14, MYH2, MYH3, MYH7, MYH9, MYL2, MYO5A, MYOT, MYPN, MYT1L, NAA10, NACC1, NADK2, NAGA, NAGLU, NALCN, NAT8L, NBN, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NECAP1, NEDD4L, NEFH, NEFL, NEMO, NEU1, NEXMIF, NF1, NFIA, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12, NLRP3, NOD2, NODAL, NOG, NOL3, NONO, NOP56, NOS2, NOS3, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPRL3, NR2F1, NRAS, NRG1, NRXN1, NSD1, NSD2, NSDHL, NSUN2, NT5C2, NTRK1, NTRK2, NUBPL, NXF5, OCLN, OCRL, OFD1, OGT, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, OTX2, PABPN1, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PARK7, PAX6, PC, PCBD1, PCDH12, PCDH19, PCK2, PCNT, PDCD10, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDK3, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGK1, PGM1, PHF6, PHF8, PHGDH, PHKA1, PHOX2A, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG2, PLEKHG4, PLEKHG5, PLK4, PLP1, PMM2, PMP22, PNKD, PNKP, PNPLA2, PNPLA6, PNPO, POGLUT1, POGZ, POLA1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PPOX, PPP2R1A, PPP2R2B, PPP2R5D, PPT1, PQBP1, PRDM12, PREPL, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKAG2, PRKCG, PRKCH, PRKDC, PRKN, PRKRA, PRNP, PRODH, PROP1, PRPH, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTCHD1, PTEN, PTF1A, PTPN11, PTS, PURA, PUS1, PVRL1, PYCR2, PYGM, QARS1, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, RAPSN, RARS1, RARS2, RASA1, RBBP8, RBCK1, RBFOX1, RBFOX3, RBM10, RBM8A, RBPJ, REEP1, REEP2, RELN, RET, RETREG1, RFT1, RIN2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF135, RNF170, RNF216, RNU4ATAC, ROBO3, ROGDI, ROR2, RPGRIP1L, RPIA, RPL10, RPS6KA3, RPSK6C1, RRM2B, RSK2, RTN2, RTN4IP1, RTTN, RUBCN, RXYLT1, RYR1, SACS, SALL4, SAMHD1, SATB2, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SELENON, SEPN1, SEPSECS, SEPT9, SERAC1, SERPINI1, SETBP1, SETD2, SETD5, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHPK, SHROOM4, SIGMAR1, SIK1, SIL1, SIX3, SIX6, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC38A8, SLC39A8, SLC3A1, SLC46A1, SLC4A1, SLC4A4, SLC52A2, SLC52A3, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SMAD2, SMAD3, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMCHD1, SMN1, SMN2, SMPD1, SMS, SNAP25, SNAP29, SNCA, SNCAIP, SNCB, SNIP1, SNORD118, SNX14, SNX3, SOBP, SOD1, SORL1, SOS1, SOX10, SOX2, SOX3, SPAST, SPATA5, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAC3, STAG2, STAMBP, STAT1, STIL, STIM1, STRADA, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUN1, SUN2, SUOX, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT14, SYT2, SZT2, TACO1, TAF1, TAF15, TAF2, TANGO2, TARDBP, TARS2, TAS2R38, TAZ, TBC1D20, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TBR1, TBX1, TCAP, TCF20, TCF4, TCTN1, TCTN2, TCTN3, TDGF1, TDP1, TECPR2, TECR, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THOC2, TIA1, TICAM1, TIMM8A, TIRAP, TK2, TLR3, TLR5, TM4SF20, TMCO1, TMEM126A, TMEM126B, TMEM138, TMEM165, TMEM187, TMEM216, TMEM231, TMEM237, TMEM240, TMEM43, TMEM5, TMEM67, TMEM70, TMLHE, TNF, TNFSF4, TNNI2, TNNT1, TNPO3, TOR1A, TOR1AIP1, TP63, TPK1, TPM2, TPM3, TPP1, TRAF3, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM2, TRIM32, TRIO, TRIP12, TRIP4, TRMT10A, TRMT5, TRPM6, TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTN, TTP1, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWNK, TYMP, TYROBP, UBA1, UBA5, UBAP1, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UNC80, UNC93B1, UPB1, UPF3B, UQCRB, UQCRQ, UROD, UROS, USP27X, USP9X, VAMP1, VANGL1, VAPB, VARS2, VAX1, VCP, VDAC1, VEGFA, VHL, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS35, VPS37A, VPS53, VRK1, WAC, WASHC5, WDPCP, WDR26, WDR45, WDR48, WDR62, WDR73, WDR81, WFS1, WNK1, WNT10A, WNT3, WNT5A, WNT7A, WT1, WWOX, XBP1, XK, XPR1, XRCC4, YAP1, YARS1, YWHAE, YY1, ZBTB16, ZBTB18, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFR, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZMYM3, ZNF335, ZNF41, ZNF423, ZNF674, ZNF711, ZNF81

SNVs and Indels up to 50bp
99.7% sensitivity
99.6% positive predictive value

Note that the PRODH, NEB, and SIK1 genes are not fully covered by this test, therefore pathogenic variants may not be detected in these genes.

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.

81161, 81171, 81173, 81175, 81177, 81178, 81179, 81180, 81181, 81182, 81183, 81184, 81185, 81187, 81188, 81189, 81204, 81234, 81236,81243, 81284, 81302, 81321, 81324, 81336, 81343, 81344, 81403, 81404, 81405, 81406, 81407, 81408, (81271)

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg