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Test code About the Report Genes covered Top Conditions Covered
21235 A whole exome based virtual panel focusing on hearing-loss genetics, covering genes associated with nonsyndromic and syndromic hearing loss. The report supports diagnosis, prognosis, family testing, cochlear implant or hearing-aid pathway planning, and evaluation for syndromic surveillance when indicated.Read More A2ML1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, AMMECR1, ANKH, ANLN, AP1B1, ARSG, ASIC5, ATOH1, ATP1A3, ATP2B2, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, BTD, C10ORF2, CABP2, CACNA1D, CATSPER2, CCDC50, CD151, CD164, CDC14A, CDC42, CDH23, CDK9, CDKN1C, CEACAM16, CEP250, CEP78, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL1A1, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNAJC3, DNMT1, DSPP, DTNA, EDN3, EDNRA, EDNRB, EFTUD2, EIF3F, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRRB, EYA1, EYA4, FAM136A, FAM65B, FDXR, FGF3, FGFR2, FGFR3, FITM2, FOXC1, FOXI1, GATA3, GDF6, GIPC3, GJA1, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HARS, HARS1, HARS2, HGF, HOMER2, HOXA2, HOXB1, HSD17B4, IFNLR1, ILDR1, KARS, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, KMT2D, LARS2, LHFPL5, LHX3, LMX1A, LOXHD1, LRP2, LRTOMT, MAFB, MAN2B1, MANBA, MAP1B, MARVELD2, MASP1, MCM2, MEPE, MET, MGP, MIR96, MITF, MPZL2, MRPS2, MSRB3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NDRG1, NEFL, NF2, NLRP3, NOG, NR2F1, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX1, PAX3, PCDH15, PCGF2, PDE1C, PDZD7, PEX1, PEX11B, PEX12, PEX13, PEX14, PEX2, PEX26, PEX5, PEX6, PEX7, PHYH, PISD, PJVK, PLS1, PLS3, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRKCB, PRPS1, PTPRQ, RAI1, RDX, REEP6, REST, RIPOR2, RMND1, ROR1, RPS6KA3, S1PR2, SALL1, SALL4, SEMA3E, SERAC1, SERPINB6, SH3TC2, SIX1, SIX2, SIX5, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SPATA5, SPNS2, STAG2, STRC, SUCLA2, SUCLG1, SYNE4, SYT2, TBC1D24, TBL1X, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMEM126A, TMEM132E, TMEM43, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRMT10C, TRMU, TRRAP, TSHZ1, TSPEAR, TUBB4B, TWNK, TYR, UBR1, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, WHRN, XYLT2Read More Congenital hearing loss, childhood-onset sensorineural hearing loss, nonsyndromic deafness, Usher syndrome, Pendred syndrome, Waardenburg syndrome, auditory neuropathy, mitochondrial hearing loss, syndromic hearing loss with renal, ocular, endocrine, or neurologic features.Read More
Test code About the Report Genes covered Top Conditions Covered
21204 A whole exome based virtual panel focusing on cardiovascular genetics, covering genes associated with inherited cardiac, vascular, rhythm, and lipid disorders. The report is designed to support diagnosis, risk stratification, family screening, surveillance planning, and referral to appropriate cardiology or inherited cardiac disease services.Read More A2ML1, AARS2, ABCA1, ABCB4, ABCB7, ABCC6, ABCC8, ABCC9, ABCG5, ABCG8, ABL1, ACAD9, ACADVL, ACAT1, ACO2, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACVR1, ACVR2B, ACVRL1, ADA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, AEBP1, AFF4, AFG3L2, AGK, AGL, AIFM1, AKAP9, ALAS2, ALDH18A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG6, ALG8, ALG9, ALMS1, ALPK3, AMMECR1, ANGPTL3, ANK2, ANKRD1, ANO5, APOA1, APOA5, APOB, APOC2, APOC3, APOE, APTX, AQP1, ARHGAP31, ARID1A, ARID1B, ARSB, ATP13A3, ATP5F1A, ATP5F1D, ATP5F1E, ATP6AP1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, ATPAF2, B3GALNT2, B3GALT6, B3GAT3, B4GALT1, B4GALT7, B4GAT1, BAG3, BBS10, BCOR, BCS1L, BGN, BMP2, BMPR1B, BMPR2, BOLA3, BRAF, C12ORF57, C1QBP, C1R, C1S, C2CD3, CA5A, CACNA1C, CACNA2D1, CACNA2D4, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CARS2, CASQ2, CASZ1, CAV1, CAV3, CAVIN4, CBL, CBS, CCDC103, CCDC115, CCDC39, CCDC40, CCNK, CDC42, CDH2, CDK13, CDK9, CDKN1C, CETP, CFAP53, CHD4, CHD7, CHKB, CHRM2, CHST14, CHST3, CLPB, COA3, COA5, COA6, COA7, COA8, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL11A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX5A, COX6A1, COX6B1, COX7B, COX8A, CPT1A, CPT2, CRELD1, CRPPA, CRYAB, CSRP3, CTF1, CTNNA3, CYC1, DAG1, DARS2, DBH, DDOST, DEPDC5, DES, DGUOK, DHDDS, DLAT, DLD, DMD, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC11, DNAJC19, DNAL1, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EARS2, ECHS1, EEF1A2, EFEMP2, EIF2AK4, ELAC2, ELN, EMD, ENG, ENPP1, EPG5, EPHB4, ETFA, ETFB, ETFDH, ETHE1, EYA4, FARS2, FASTKD2, FBLN5, FBN1, FBN2, FBXL4, FBXO32, FDX2, FDXR, FH, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNC, FOXD4, FOXF1, FOXH1, FOXRED1, FXN, GAA, GARS1, GATA2, GATA4, GATA5, GATA6, GATAD1, GATB, GATC, GBA1, GBE1, GDF1, GDF2, GFER, GFM1, GFM2, GJA1, GJA5, GLA, GLB1, GLRX5, GMPPA, GMPPB, GNE, GOSR2, GPC3, GPD1L, GSK3B, GTPBP3, GUSB, GYG1, HADHA, HADHB, HAMP, HAND1, HARS2, HCN4, HEXB, HFE, HIBCH, HJV, HLCS, HMGCL, HMGCS2, HRAS, HSD17B10, HSPD1, HTRA2, IARS1, IARS2, IBA57, IDUA, ILK, INVS, ISCA1, ISCA2, ISCU, JAG1, JPH2, JUP, KARS1, KAT6B, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KLF2, KLHL24, KMT2D, KRAS, KYNU, LAMA2, LAMA4, LAMA5, LAMP2, LARGE1, LARS2, LCAT, LDB3, LDLR, LDLRAP1, LEFTY2, LEMD2, LIAS, LIPA, LIPI, LIPT1, LMF1, LMNA, LMOD2, LONP1, LOX, LPL, LRP6, LRPPRC, LRRC10, LTBP3, LTBP4, LYRM4, LYRM7, LZTR1, LZTS1, MAGT1, MAN1B1, MAP2K1, MAP2K2, MAP3K8, MARS2, MAT2A, MDH2, MECR, MED12, MED13L, MEGF8, MEIS2, MFAP5, MFF, MFN2, MGAT2, MGME1, MIB1, MICOS13, MIPEP, MKS1, MLYCD, MMP21, MMUT, MOGS, MPC1, MPDU1, MPI, MPV17, MRAS, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTO1, MTPAP, MTRFR, MTTP, MYBPC3, MYBPHL, MYCN, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO18B, MYO6, MYOM1, MYOT, MYOZ2, MYPN, MYRF, NAA15, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEBL, NEK8, NEXN, NF1, NF2, NFS1, NFU1, NGLY1, NIPBL, NKAP, NKX2-5, NKX2-6, NME8, NODAL, NONO, NOS1AP, NOTCH1, NOTCH2, NOTCH3, NPHP3, NPPA, NR2F2, NRAP, NRAS, NSD1, NSUN2, NSUN3, NUBPL, OBSCN, OFD1, OPA1, OPA3, OXA1L, P3H1, PARS2, PC, PCCA, PCCB, PCDH19, PCSK9, PDHA1, PDHB, PDHX, PDLIM3, PDP1, PDSS1, PDSS2, PET100, PET117, PGM1, PHYH, PITX2, PKD1L1, PKP2, PLD1, PLEC, PLEKHM2, PLN, PLOD1, PLP1, PMM2, PMPCB, PNPLA2, PNPLA4, PNPLA8, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPA2, PPCS, PPP1CB, PRDM16, PRDM5, PRDM6, PRKAG2, PRKAR1A, PRKD1, PRKG1, PRRT2, PSEN2, PTCD3, PTPN11, PUF60, PUS1, PYCR1, QRSL1, RAB23, RAF1, RANGRF, RARS1, RARS2, RASA1, RASA2, RBCK1, RBM10, RBM20, RECQL4, RERE, RFT1, RIN2, RIT1, RMND1, RNASEH1, ROBO3, RRAS, RRM2B, RTN4IP1, RXYLT1, RYR2, SALL4, SARS2, SASH1, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SELENON, SERAC1, SFXN4, SGCA, SGCB, SGCD, SGCG, SGSH, SHOC2, SKI, SLC12A3, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A19, SLC25A20, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC2A10, SLC35A1, SLC35A2, SLC35C1, SLC39A13, SLC39A8, SLC40A1, SLMAP, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMARCB1, SMC1A, SMC3, SMCHD1, SMS, SNTA1, SOS1, SOS2, SOX17, SPARC, SPEG, SPG7, SPRED1, SSR4, STAMBP, STRA6, STT3A, STT3B, SUCLA2, SUCLG1, SURF1, SYNE1, SYNGAP1, TAB2, TACO1, TAFAZZIN, TARS2, TAZ, TBX1, TBX20, TBX4, TBX5, TCAP, TECRL, TFAM, TFAP2B, TFR2, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TIM32, TIMM22, TIMM50, TIMM8A, TIMMDC1, TK2, TLL1, TMEM126B, TMEM165, TMEM199, TMEM43, TMEM65, TMEM70, TMPO, TNFRSF1A, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TOR1AIP1, TPK1, TPM1, TRDN, TRIM32, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM4, TSFM, TTC19, TTC8, TTN, TTR, TUFM, TUSC3, TWIST1, TWNK, TXNRD2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, VCL, VCP, VP, VPS13A, WARS2, XK, XPNPEP3, YARS2, YWHAE, ZEB2, ZFPM2, ZIC3, ZNF469Read More Hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, familial hypercholesterolemia, aortopathy, Marfan/Loeys-Dietz spectrum, congenital heart disease.Read More
Test code About the Report Genes covered Top Conditions Covered
21234 A whole-exome-based carrier screening report intended for reproductive planning, premarital screening, consanguineous couples, and families with known or suspected inherited disease risk. The report focuses on clinically significant carrier findings (ClinVar based pathogenic and likely pathogenic variants) that may guide partner testing, genetic counseling, prenatal planning, or assisted reproductive decision-making. Whole exome; pathogenic/likely pathogenic carrier findings across exome genes. Consanguinity-related reproductive risk, premarital and preconception screening. Future and reproductive planning.
Test code About the Report Genes covered Top Conditions Covered
21102 A comprehensive whole-exome sequencing report designed for patients with suspected inherited or rare genetic disorders, especially when the phenotype is broad, complex, or not clearly explained by a focused panel. The report evaluates clinically relevant sequence and copy-number variants across exome genes and supports diagnosis, phenotype–genotype correlation, family testing, and recurrence-risk counseling.Read More Whole exome; no fixed product gene list. Case-dependent. Whole exome-based comprehensive coverage. Complex cases that may be difficult to diagnose. Wide array of diagnoses with variants based in the exonic regions and exon-intron boundaries.Read More
Test code About the Report Genes covered Top Conditions Covered
21221 A whole exome based virtual panel focusing on neurodevelopmental and pediatric genetics, covering genes associated with developmental delay, intellectual disability, congenital anomalies, autism-overlap phenotypes, epilepsy, and syndromic presentations. The report supports diagnosis, syndrome-specific surveillance, therapy referrals, parental testing, and recurrence counseling.Read More A2ML1, AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCB4, ABCB7, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABHD12, ABHD16A, ABHD5, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD6, ACER3, ACO2, ACOX1, ACSF3, ACTA1, ACTA2, ACTB, ACTC1, ACTL6B, ACTN2, ACVR2B, ACVRL1, ACY1, ADA, ADA2, ADAMTS2, ADAMTSL2, ADAR, ADAT3, ADCY5, ADCY6, ADK, ADNP, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGO1, AGO2, AGPAT2, AGPS, AGRN, AGTPBP1, AGXT, AHCY, AHDC1, AIFM1, AIMP1, AKAP9, AKT2, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ALMS1, ALPK3, ALS2, AMACR, AMFR, AMN, AMPD1, AMT, ANG, ANK2, ANKRD1, ANKRD11, ANKRD17, ANO10, ANO3, ANO5, ANTXR2, ANXA11, AP1S1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOA5, APOB, APRT, APTX, ARG1, ARHGEF10, ARHGEF28, ARID1A, ARID1B, ARID2, ARSA, ARSB, ARX, ASAH1, ASCC1, ASH1L, ASL, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATCAY, ATIC, ATL1, ATL3, ATM, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP5F1A, ATP5F1E, ATP6AP1, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATPAF2, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, AUTS2, B2M, B3GALNT2, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCL11A, BCL11B, BCOR, BCS1L, BEAN1, BICD2, BIN1, BMPR2, BOLA3, BRAF, BRPF1, BSCL2, BSND, BTD, BVES, C19orf12, C1QBP, C1R, C1S, C9orf72, CA2, CA5A, CACNA1A, CACNA1C, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D4, CACNB2, CAD, CALM1, CALM2, CALM3, CALR3, CAMK2A, CAMK2B, CAPN3, CARS2, CASK, CASQ1, CASQ2, CASR, CASZ1, CAV1, CAV3, CAVIN1, CAVIN4, CBL, CBLIF, CBS, CC2D2A, CCDC103, CCDC115, CCDC39, CCDC40, CCDC78, CCT5, CD320, CD59, CDH2, CDK13, CDK19, CDKL5, CEP290, CFAP410, CFL2, CHAMP1, CHAT, CHCHD10, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP2B, CHRM2, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIC, CIDEC, CLCF1, CLCN1, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLYBL, CNBP, CNNM2, CNNM4, CNOT1, CNOT2, CNOT3, CNTN1, CNTNAP1, CNTNAP2, COA3, COA5, COA6, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A1, COL11A2, COL12A1, COL13A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX6A1, COX6B1, COX7B, COX8A, CPLANE1, CPOX, CPS1, CPT1A, CPT2, CREBBP, CRELD1, CRLF1, CRPPA, CRYAB, CSF1R, CSNK2A1, CSNK2B, CSRP3, CTCF, CTDP1, CTF1, CTH, CTNNA3, CTNNB1, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CYC1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAB1, DAG1, DAO, DARS2, DBH, DBT, DCAF8, DCTN1, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DDX59, DEAF1, DEGS1, DEPDC5, DES, DGUOK, DHCR7, DHDDS, DHH, DHODH, DHTKD1, DHX30, DLAT, DLD, DLG4, DMD, DMPK, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB2, DNAJB6, DNAJC11, DNAJC12, DNAJC19, DNAJC3, DNAJC30, DNAJC6, DNAL1, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOK7, DOLK, DPAGT1, DPF2, DPM1, DPM2, DPM3, DPYD, DPYS, DRP2, DSC2, DSG2, DSP, DST, DTNA, DYM, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBF3, EBP, ECHS1, ECSIT, EEF1A2, EFEMP2, EFTUD2, EGF, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELN, ELOVL5, ELP1, EMD, ENG, ENO3, ENPP1, EP300, EPG5, EPM2A, EPRS1, ERBB3, ERBB4, ERCC6, ERCC8, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, EYA4, FA2H, FAH, FAM111A, FARS2, FASTKD2, FBLN5, FBN1, FBN2, FBP1, FBXL4, FBXO11, FBXO32, FBXO38, FBXO7, FDX2, FDXR, FECH, FGD4, FGF14, FH, FHL1, FHL2, FHOD3, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNB, FLNC, FLVCR1, FMO3, FMR1, FOLR1, FOXD4, FOXG1, FOXH1, FOXP1, FOXP2, FOXRED1, FUCA1, FUS, FUT8, FXN, FXYD2, G6PC, GAA, GABRA1, GABRA2, GABRB2, GABRB3, GABRG2, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GARS1, GATA2, GATA4, GATA5, GATA6, GATAD1, GATM, GBA1, GBA2, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GDF1, GFER, GFM1, GFM2, GFPT1, GJA1, GJA5, GJB1, GJB3, GJC2, GLA, GLB1, GLDC, GLRX5, GLUD1, GLUL, GM2A, GMPPA, GMPPB, GNAL, GNAO1, GNB4, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOLGA2, GOT2, GPC3, GPD1L, GPHN, GRIA1, GRIA2, GRIA3, GRID2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GSK3B, GSN, GTPBP3, GUSB, GYG1, GYG2, GYS1, GYS2, HACD1, HADH, HADHA, HADHB, HAMP, HAND1, HARS1, HARS2, HCFC1, HCN4, HDAC8, HECW2, HEPACAM, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HIKESHI, HINT1, HINT2, HIVEP2, HJV, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPDL, HNRNPK, HNRNPU, HPCA, HPD, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA2, HTT, HUWE1, HYAL1, HYCC1, IARS2, IBA57, IDH2, IDS, IDUA, IFIH1, IFT140, IFT172, IGHMBP2, ILK, INF2, INPP5K, INSR, INVS, IQSEC2, ISCA2, ISCU, ITGA7, ITPA, ITPR1, IVD, JAG1, JPH2, JPH3, JUP, KANSL1, KARS1, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA1, KCNA2, KCNA5, KCNB1, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNMA1, KCNQ1, KCNQ2, KCNQ3, KCNT1, KDM3B, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF1B, KIF5A, KLHL24, KLHL40, KLHL41, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KRAS, L1CAM, L2HGDH, LAMA2, LAMA4, LAMA5, LAMP2, LARGE1, LARS1, LARS2, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEFTY2, LEMD2, LIAS, LIMS2, LIPA, LIPE, LIPT1, LIPT2, LITAF, LMBRD1, LMNA, LMNB1, LMOD2, LMOD3, LONP1, LPIN1, LRP4, LRPPRC, LRRC10, LRSAM1, LYRM4, LYRM7, LYST, LZTR1, MAF, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAP3K20, MAP3K8, MARS1, MARS2, MATR3, MBD5, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MCPH1, MECP2, MED12, MED13L, MED25, MEF2C, MEGF10, MEIS2, MFAP5, MFF, MFN2, MFSD8, MGAT2, MGME1, MIB1, MICU1, MIPEP, MKS1, MLC1, MLYCD, MMAA, MMAB, MMADHC, MME, MMP21, MMUT, MOBP, MOCOS, MOCS1, MOCS2, MOCS3, MOGS, MORC2, MPC1, MPDU1, MPI, MPV17, MPZ, MRM2, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTHFR, MTM1, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRFR, MTRR, MTTP, MUSK, MYBPC3, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYMK, MYMX, MYO18B, MYO9A, MYOM1, MYOT, MYOZ2, MYPN, MYRF, MYT1L, NAA10, NAA15, NAGA, NAGLU, NAGS, NALCN, NARS2, NAXD, NAXE, NBAS, NDE1, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEBL, NEFH, NEFL, NEK1, NEK8, NEU1, NEXN, NF1, NFU1, NGF, NGLY1, NHLRC1, NIPA1, NIPA2, NKX2-1, NKX2-5, NKX2-6, NKX6-2, NME8, NODAL, NONO, NOP56, NOS1AP, NOTCH1, NOTCH2, NPC1, NPC2, NPHP3, NPPA, NPRL2, NPRL3, NR2F1, NR2F2, NRAP, NRAS, NSD1, NSUN2, NT5C3A, NTRK1, NUBPL, OAT, OBSCN, OFD1, OPA1, OPA3, OPHN1, OPTN, OTC, OXCT1, PABPN1, PACS1, PAFAH1B1, PAH, PANK2, PARK7, PARS2, PAX3, PC, PCBD1, PCCA, PCCB, PCDH19, PCK1, PCSK9, PDE10A, PDHA1, PDHB, PDHX, PDK3, PDLIM3, PDP1, PDSS1, PDSS2, PDX1, PDYN, PEPD, PET100, PET117, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGA3, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIEZO2, PIGA, PIGG, PIGN, PIGT, PIGV, PIGW, PINK1, PKD1L1, PKP2, PLA2G6, PLEC, PLEKHG5, PLEKHM2, PLIN1, PLN, PLOD1, PLP1, PMM2, PMP2, PMP22, PMPCA, PNKD, PNKP, PNP, PNPLA2, PNPLA3, PNPLA6, PNPT1, POGLUT1, POGZ, POLG, POLG2, POLR3A, POLR3B, POLR3C, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PPA2, PPARG, PPCS, PPOX, PPP1CB, PPP2R1A, PPP2R5D, PPT1, PRDM12, PRDM16, PREPL, PRKAG2, PRKAG3, PRKCG, PRKG1, PRKN, PRNP, PRODH, PRPS1, PRRT2, PRUNE1, PRX, PSAP, PSEN2, PTEN, PTF1A, PTPN11, PTRH2, PTS, PUF60, PUM1, PURA, PUS1, PYGL, PYGM, PYROXD1, QARS1, QDPR, QRSL1, RAB7A, RAF1, RAI1, RANGRF, RAPSN, RARS1, RASA2, RBCK1, RBM20, REEP1, RELN, REN, RETREG1, RFC1, RFT1, RHEB, RIT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPS6KA3, RRAS, RRM2B, RTN2, RYR1, RYR2, RYR3, SACS, SAMHD1, SARS2, SATB2, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SCYL1, SDHA, SDHAF1, SEC23B, SELENON, SEPTIN9, SERAC1, SERPINA1, SETD1A, SETD1B, SETD2, SETD5, SETX, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK3, SHOC2, SI, SIGMAR1, SIL1, SKI, SLC10A7, SLC12A3, SLC12A5, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC2A10, SLC2A2, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A13, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC5A7, SLC6A1, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A1, SLMAP, SMAD3, SMAD4, SMAD6, SMAD9, SMARCA2, SMARCA4, SMC1A, SMC3, SMCHD1, SMN1, SMN2, SMPD1, SNAP25, SNAP29, SNTA1, SNX14, SOD1, SON, SORD, SOS1, SOS2, SOX10, SPAST, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SPRED1, SPTAN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SPTLC3, SQSTM1, SRCAP, SRD5A3, SSBP1, SSR4, STAC3, STT3A, STT3B, STX1B, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SYT14, SYT2, SZT2, TAB2, TACO1, TAF15, TALDO1, TANGO2, TARDBP, TARS2, TAT, TAZ, TBC1D4, TBK1, TBL1XR1, TBP, TBR1, TBX1, TBX20, TBX5, TCAP, TCF4, TCN2, TCTN1, TCTN2, TCTN3, TDP1, TECPR2, TFAM, TFG, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TH, TIA1, TIMM50, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM165, TMEM199, TMEM231, TMEM251, TMEM43, TMEM63A, TMEM67, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TNPO3, TNXB, TOR1A, TOR1AIP1, TPK1, TPM1, TPM2, TPM3, TPMT, TPP1, TRAPPC11, TRDN, TREX1, TRIM2, TRIM32, TRIM37, TRIO, TRIT1, TRMT10C, TRMU, TRNT1, TRPA1, TRPM4, TRPM6, TRPV4, TSC1, TSC2, TSFM, TTC19, TTC21B, TTC8, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUFM, TUSC3, TWNK, TXNRD2, TYMP, UBA1, UBE3A, UBQLN2, UCP2, UMOD, UMPS, UNC13A, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROD, UROS, USP9X, VAMP1, VAPB, VARS2, VCL, VCP, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13C, VPS13D, VPS33B, VPS35, VPS37A, VRK1, WAC, WARS1, WASHC5, WDR45, WDR62, WFS1, WNK1, WWOX, XDH, XK, XPA, XPC, XRCC1, YARS1, YARS2, YWHAE, ZBTB20, ZC4H2, ZEB2, ZFPM2, ZFYVE26, ZFYVE27, ZIC3, ZMPSTE24, ZNF462, ZNF469, CACNA1E, NLGN3, NLGN4X, NRXN1Read More Developmental delay, intellectual disability, autism spectrum disorder, congenital anomalies, epilepsy, hypotonia, syndromic short stature, metabolic neurodevelopmental disorders, chromatinopathies, multiple congenital anomaly syndromes.Read More
Test code About the Report Genes covered Top Conditions Covered
21228 A whole exome based virtual panel focusing on endocrine genetics, covering genes associated with monogenic diabetes, congenital hyperinsulinism, adrenal, pituitary, thyroid, parathyroid, growth, pubertal, and endocrine tumor predisposition disorders. The report supports diagnosis, treatment refinement, prognosis, and family testing.Read More AAAS, ABCA1, ABCC8, ABCD1, ABCG5, ABCG8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADK, AGL, AIRE, AKR1C4, AKT2, ALDH7A1, ALDOA, ALDOB, ALG12, ALG3, ALG6, ALMS1, AMH, AMHR2, ANOS1, AP2S1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, APPL1, AR, ARL6, ARMC5, ARX, ASXL2, ATF3, ATP5F1D, ATRX, AUH, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCOR, BLK, BMP15, BMP4, BMP7, BNC2, BSND, CA5A, CACNA1C, CACNA1D, CASR, CBX2, CCNQ, CDC73, CDK9, CDKN1A, CDKN1B, CDKN1C, CDKN2B, CDKN2C, CEL, CEP41, CHD4, CHD7, CILK1, CISD2, CLCNKB, CLDN16, CLDN19, CLPP, CNNM2, CNNM4, CNOT1, COG7, CP, CPT1A, CPT2, CREB3L3, CREBBP, CSK, CUL7, CYB5A, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP21A2, CYP27A1, CYP7B1, DBH, DBT, DCAF17, DDC, DGUOK, DHCR24, DHCR7, DHH, DLD, DMRT1, DMRT2, DMXL2, DNAJC3, DNMT3B, DOLK, DUOX2, DUOXA2, DYNC2H1, DYNC2I1, DYRK1B, EFNB1, EGF, EIF2AK3, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF2S3, ENO3, EPG5, ESCO2, ETFA, ETFB, ETFDH, EVC, EVC2, FAH, FAM111A, FAT4, FBP1, FBXL4, FEZF1, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FIGLA, FLAD1, FLNA, FOXE1, FOXL2, FOXP3, FRAS1, FREM2, FSHB, FSHR, FXYD2, G6PC1, GAA, GALE, GALK1, GALT, GATA4, GATA6, GATB, GBE1, GCDH, GCK, GCM2, GH1, GHR, GK, GLI3, GLIS3, GLUD1, GNA11, GNAS, GNRH1, GNRHR, GPC3, GPD1, GPIHBP1, GRIP1, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HBA1, HCCS, HESX1, HFE, HFM1, HHAT, HK1, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HOXA13, HOXA4, HOXB6, HRAS, HS6ST1, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, IER3IP1, IGSF1, IL17RD, IL2RA, INS, INSL3, INSR, IRF6, ITCH, IVD, IYD, KCNA1, KCNJ10, KCNJ11, KDM6A, KISS1, KISS1R, KLF11, KMT2D, LAMP2, LDHA, LDLR, LDLRAP1, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LIPA, LMF1, LMNA, LPL, LRBA, LRPPRC, MAFA, MAGT1, MAMLD1, MAP3K1, MC2R, MCCC1, MCCC2, MCM8, MCM9, MED12, MEN1, MICOS13, MID1, MKKS, MKS1, MLYCD, MMUT, MPC1, MPI, MPV17, MRAP, MRPS23, MRPS28, MRPS7, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NADK2, NEK1, NEUROD1, NEUROG3, NIPA2, NKX2-1, NKX2-2, NKX2-5, NNT, NOBOX, NR0B1, NR1H4, NR3C1, NR5A1, NSD1, NSMF, OGDH, OPHN1, OPLAH, OTX2, OXCT1, PAX4, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PCNT, PCSK1, PCSK9, PDE11A, PDE4D, PDE8B, PDX1, PEX1, PFKM, PGAM2, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PITX2, PMM2, PNPO, POLD1, POLR3B, POMC, POP1, POR, POU1F1, PPARG, PPP1R15B, PRKAG2, PRKAR1A, PROK2, PROKR2, PROP1, PSMC3IP, PTDSS1, PTF1A, PTH, PTPN11, PYGL, PYGM, RBBP8, RBCK1, RET, RFX6, RIPK4, RNF125, RNF216, ROR2, RSPO1, SALL1, SARS2, SECISBP2, SEMA3A, SERAC1, SETBP1, SLC12A3, SLC16A1, SLC16A2, SLC19A2, SLC22A5, SLC25A13, SLC25A20, SLC25A32, SLC26A4, SLC29A3, SLC2A2, SLC37A4, SLC52A1, SLC52A2, SLC52A3, SLC5A5, SOHLH1, SOS1, SOX10, SOX2, SOX3, SOX9, SPECC1L, SRD5A2, SRY, STAG3, STAR, STAT1, STAT3, TAC3, TACR3, TAFAZZIN, TALDO1, TANGO2, TBX15, TBX19, TFAM, TG, THRA, THRB, TMEM70, TOE1, TP63, TPO, TRAIP, TRH, TRHR, TRIM32, TRMT10A, TRPM6, TRPV6, TSHB, TSHR, TSPYL1, TTC8, TWIST2, UBR1, UCP2, UQCC3, UQCRB, UQCRC2, WDR11, WDR35, WFS1, WNT4, WNT5A, WNT7A, WT1, WWOX, ZBTB20, ZEB2, ZFP57, ZFPM2, ZMPSTE24, ACAN, AIP, FH, GHRHR, GLI2, MAX, NPR2, PTH1R, SDHA, SDHB, SDHC, SDHD, SHOX, TMEM127, VHLRead More MODY/monogenic diabetes, neonatal diabetes, congenital hyperinsulinism, congenital adrenal hyperplasia, adrenal insufficiency, pituitary hormone deficiency, short stature/growth disorders, hypogonadism, disorders of sex development, thyroid/parathyroid disorders, endocrine tumor predisposition.Read More
Test code About the Report Genes covered Top Conditions Covered
21223 A 50-gene exome-based report for expert users who already know the exact gene set they want repeatedly reviewed. The customer defines the 50 genes, and reporting is limited to clinically relevant findings within that saved gene set. Customer-defined up to 50 genes. Customer-defined conditions based on the selected 50 genes; suitable for specialist clinics with an established internal panel or repeat-use gene set.
Test code About the Report Genes covered Top Conditions Covered
21206 A whole exome based virtual panel focusing on immunology genetics, covering genes associated with primary immunodeficiency, immune dysregulation, autoinflammatory disease, complement defects, and infection susceptibility. The report supports clinical diagnosis, immune-directed management, family testing, vaccine/prophylaxis decisions, and transplant referral when appropriate.Read More ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS3, ADAR, ADIPOQ, ADIPOR1, AICDA, AIRE, AK2, ALG6, ALPI, ANGPT1, ANKZF1, AP1S3, AP3B1, AP3D1, APOA1, APOA2, APOL1, ARHGEF1, ARPC1B, ASAH1, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRIP1, BTK, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C3, C4BPA, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CBL, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CDK9, CEBPE, CENPF, CFAP298, CFAP300, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CLU, COG6, COL7A1, COLEC11, COPA, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYP27A1, DBR1, DCLRE1B, DCLRE1C, DDX58, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, EFL1, EIF2AK3, ELANE, EPG5, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F11, F13A1, F13B, F5, F7, F8, F9, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCHO1, FCN3, FERMT1, FERMT3, FGA, FGB, FOXI3, FOXN1, FOXP3, FPR1, G6PC1, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GFI1, GINS1, GP1BA, GP1BB, GP9, GTF2E2, GTF2H5, GUCY2C, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTRA2, HYDIN, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL2, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, INSR, INVS, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK2, JAK3, KDM6A, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MAT2A, MBL2, MC2R, MCIDAS, MCM4, MEFV, MLPH, MOGS, MPL, MPLKIP, MPO, MRE11, MRTFA, MS4A1, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYO5B, MYSM1, NBAS, NBN, NCF2, NCF4, NCSTN, NEUROG3, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, OFD1, ORAI1, OSTM1, OTULIN, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PI4KA, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PRF1, PRG4, PRKCD, PRKDC, PROC, PROS1, PSEN1, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAD50, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27A, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SAR1B, SBDS, SCO2, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SI, SIAE, SKIV2L, SLC10A2, SLC26A3, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STX3, STXBP2, TAFAZZIN, TAOK2, TAP1, TAP2, TAPBP, TBK1, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TIMM50, TINF2, TIRAP, TLR3, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TP63, TPP1, TPP2, TRAC, TRADD, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UBE2T, UNC119, UNC13D, UNC45A, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, VSIG4, VTN, WAS, WDR1, WIPF1, WRAP53, XIAP, XK, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341, SOCS1Read More Primary immunodeficiency, inborn errors of immunity, combined immunodeficiency, antibody deficiency, immune dysregulation, HLH-like disorders, autoinflammatory syndromes, neutropenia, phagocytic defects, complement deficiency, recurrent severe infections.Read More
Test code About the Report Genes covered Top Conditions Covered
21209 A whole exome based virtual panel focusing on kidney genetics, covering genes associated with inherited renal disease, cystic kidney disease, glomerular disease, tubulopathies, complement-mediated kidney disorders, and syndromic nephropathies. The report supports diagnosis, prognosis, family screening, transplant/donor assessment, and management planning.Read More ACE, ACTN4, ADAMTS9, ADCY10, AGT, AGTR1, AGXT, AHI1, ALG1, ALMS1, ANKFY1, ANKS6, ANLN, ANOS1, AP2S1, APOA1, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC9, ATP6V0A4, ATP6V1B1, ATP6V1C2, ATP7B, ATXN10, AVIL, AVPR2, B2M, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BMP4, BMP7, BNC2, BSND, C2CD3, CA2, CACNA1D, CACNA1H, CASR, CC2D2A, CD151, CD2AP, CDC5L, CDK20, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP410, CFAP418, CHD1L, CHD7, CLCN2, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CPLANE1, CRB2, CSPP1, CTNS, CTU2, CUBN, CUL3, CYP11B1, CYP11B2, CYP24A1, CYP27B1, DAAM2, DCDC2, DGKE, DHCR7, DICER1, DLC1, DLG5, DMP1, DNAJB11, DSTYK, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DZIP1L, EGF, EHHADH, EMP2, ENPP1, EYA1, FAH, FAN1, FAT1, FAT4, FGA, FGF20, FGF23, FGFR1, FGFR2, FN1, FOXC1, FOXP1, FRAS1, FREM1, FREM2, FXYD2, GANAB, GAPVD1, GATA3, GATM, GLA, GLI2, GLI3, GLIS2, GNA11, GON7, GPC3, GREB1L, GRHPR, GRIP1, GSN, HNF1B, HNF4A, HOGA1, HOXA13, HOXA4, HOXB6, HPRT1, HPSE2, HSD11B2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, INF2, INPP5E, INVS, IQCB1, ITGA3, ITGA8, ITGB4, ITSN1, ITSN2, JAG1, KANK1, KANK2, KANK4, KAT2B, KAT6B, KATNIP, KCNJ1, KCNJ10, KCNJ5, KCTD1, KIF14, KIF7, KIRREL1, KLHL3, KMT2D, LAGE3, LAMA5, LAMB2, LCAT, LIFR, LMX1B, LRP4, LRP5, LYZ, LZTFL1, MAFB, MAGED2, MAGI2, MAPKBP1, MKKS, MKS1, MUC1, MYH9, MYO1E, NEK1, NEK8, NEU1, NFKB2, NIPBL, NLRP3, NOS1AP, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NRIP1, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OFD1, OSGEP, PARN, PAX2, PBX1, PDSS2, PHEX, PKD1, PKD2, PKHD1, PLCE1, PMM2, PTPRO, REN, RET, ROBO1, ROBO2, RPGRIP1L, SALL1, SALL4, SARS2, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC17A5, SLC22A12, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, SOX11, SOX17, SRGAP1, TBC1D1, TBC1D8B, TBX18, TCTN1, TCTN2, TCTN3, TFAP2A, TMEM107, TMEM138, TMEM216, TMEM237, TMEM67, TNS2, TNXB, TP53RK, TPRKB, TRAP1, TRIM32, TRIM8, TRPC6, TRPM6, TSC1, TSC2, TTC21B, TTC8, TTR, UMOD, UPK3A, VDR, VHL, VIPAS39, VPS33B, VWA2, WDPCP, WDR19, WDR35, WDR4, WDR73, WNK1, WNK4, WNT4, WT1, XDH, XPNPEP3, XPO5, YRDC, ZMYM2, ZNF423, ALG8, ALG9, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, PLG, THBDRead More Polycystic kidney disease, cystic kidney disease, Alport syndrome, thin basement membrane nephropathy, nephrotic syndrome, focal segmental glomerulosclerosis, CAKUT, renal tubulopathies, electrolyte disorders, nephrolithiasis-related disorders, complement-mediated kidney disease/aHUS.Read More
Test code About the Report Genes covered Top Conditions Covered
21225 A whole exome based virtual panel focusing on neurology and neuromuscular genetics report, covering genes associated with epilepsy, movement disorders, neuropathies, myopathies, muscular dystrophies, ataxia, spasticity, and mitochondrial-neurologic disease. The report may help refine diagnosis, guide surveillance, support treatment considerations, and enable family testing.Read More AAAS, AARS1, AARS2, ABCA1, ABCB7, ABCD1, ABHD12, ACAD9, ACADVL, ACO2, ACTA1, ADCY6, AFG3L2, AGK, AGTPBP1, AGXT, AIFM1, ALAS2, AMACR, ANO5, AP1S1, AP4B1, AP4E1, AP4S1, AP5Z1, APOA1, APTX, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP2A1, ATP5F1A, ATP5F1E, ATP7A, ATP7B, ATPAF2, AUH, B2M, B3GALNT2, B4GALNT1, B4GAT1, BAG3, BCKDHB, BCS1L, BICD2, BIN1, BOLA3, BSCL2, C19orf12, CAPN3, CARS2, CASQ1, CAV3, CCT5, CD59, CFL2, CHCHD10, CHKB, CLCF1, CLPB, CNTN1, CNTNAP1, COA5, COA6, COA7, COA8, COASY, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX8A, CPOX, CRLF1, CRPPA, CRYAB, CTDP1, CTSA, CYC1, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS2, DCAF8, DCTN1, DDHD1, DDHD2, DEGS1, DES, DGUOK, DHH, DHTKD1, DLAT, DLD, DMD, DNA2, DNAJB2, DNAJB6, DNAJC19, DNAJC3, DNM1L, DNM2, DNMT1, DPM3, DRP2, DST, DYNC1H1, DYSF, EARS2, ECHS1, EGR2, ELAC2, ELP1, EMD, ERBB3, ERCC6, ERCC8, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAH, FARS2, FASTKD2, FBLN5, FBXL4, FBXO38, FDX2, FGD4, FGF14, FH, FHL1, FIG4, FKRP, FKTN, FLAD1, FLNC, FLVCR1, FMR1, FOXRED1, FXN, GAA, GALC, GAN, GARS1, GBA2, GBE1, GCDH, GDAP1, GFER, GFM1, GFM2, GJB1, GJB3, GJC2, GLA, GLRX5, GMPPB, GNB4, GOLGA2, GSN, GTPBP3, GYG1, GYG2, HADHA, HADHB, HARS1, HARS2, HINT1, HINT2, HK1, HMBS, HMGCL, HNRNPDL, HSPB1, HSPB3, HSPB8, HSPD1, HTRA2, HYCC1, IARS2, IBA57, IGHMBP2, INF2, INPP5K, ISCA2, ISCU, ITGA7, KARS1, KBTBD13, KCNA2, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, L1CAM, LAMA2, LAMP2, LARGE1, LARS1, LARS2, LDB3, LIAS, LIMS2, LIPT1, LITAF, LMNA, LMOD3, LRPPRC, LRSAM1, LYRM4, LYRM7, LYST, MAF, MAP3K20, MARS1, MARS2, MCM3AP, MED25, MEGF10, MFF, MFN2, MGME1, MICU1, MMACHC, MME, MORC2, MPC1, MPV17, MPZ, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTM1, MTMR2, MTO1, MTPAP, MTRFR, MTTP, MYH14, MYH7, MYO18B, MYOT, NAGA, NARS2, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEFH, NEFL, NFS1, NFU1, NGF, NIPA1, NR2F1, NTRK1, NUBPL, OAT, OPA1, OPA3, OTC, PABPN1, PANK2, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX10, PEX7, PGK1, PHKA1, PHKB, PHYH, PLA2G6, PLEC, PLEKHG5, PLOD1, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA3, PNPLA6, PNPT1, POGLUT1, POLG, POLG2, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPOX, PRDM12, PRKAG2, PRKCG, PRNP, PRPS1, PRX, PTEN, PTPN11, PTRH2, PUS1, PYGM, PYROXD1, QARS1, RAB7A, RARS1, RARS2, RBCK1, REEP1, RETREG1, RMND1, RNASEH1, RRM2B, RTN2, RYR1, SACS, SARS2, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN4A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDHA, SDHAF1, SELENON, SEPTIN9, SERAC1, SETX, SFXN4, SGCA, SGCB, SGCD, SGCG, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A2, SLC19A2, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC33A1, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SMN1, SMN2, SNAP29, SOD1, SOX10, SPAST, SPEG, SPG11, SPG20, SPG21, SPG7, SPTBN4, SPTLC1, SPTLC2, SPTLC3, STAC3, SUCLA2, SUCLG1, SURF1, SYNE1, SYT2, TACO1, TANGO2, TARS2, TAZ, TCAP, TDP1, TECPR2, TFAM, TFG, TIA1, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM43, TMEM70, TNNT1, TNPO3, TOR1AIP1, TPK1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIT1, TRMT10C, TRMU, TRNT1, TRPA1, TRPV4, TSFM, TTC19, TTN, TTPA, TTR, TUBB3, TUFM, TWNK, TYMP, UBA1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VAPB, VARS2, VCP, VMA21, VPS13A, VPS37A, VRK1, WARS1, WASHC5, WDR45, WFS1, WNK1, XK, XPA, XPC, XRCC1, YARS1, YARS2, ZFYVE26, ZFYVE27Read More Epilepsy, developmental and epileptic encephalopathy, muscular dystrophy, congenital myopathy, peripheral neuropathy, hereditary spastic paraplegia, ataxia, dystonia, movement disorders, mitochondrial disease, motor neuron disease overlap.Read More
Test code About the Report Genes covered Top Conditions Covered
21203 A whole exome based virtual panel focusing on cancer predisposition, covering genes associated with inherited cancer risk. The report supports risk assessment, surveillance planning, cascade family testing, and consideration of risk-reducing or targeted management pathways where appropriate. This is a germline hereditary cancer report, not a somatic tumor sequencing or chemotherapy pharmacogenomics test.Read More ABRAXAS1, ACVRL1, AIP, AKT1, ALK, ANKRD26, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTNNA1, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, EFL1, EGFR, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GPR101, GREM1, HAVCR2, HNF1A, HNF1B, HOXB13, HRAS, IKZF1, KIF1B, KIT, KITLG, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NRAS, NSD1, NSUN2, NTHL1, PALB2, PAX5, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RASA2, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNASEL, RNF43, RPS20, RRAS, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SRP72, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TRIP13, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, XRCC2, XRCC3, ACDRead More Hereditary breast and ovarian cancer, BRCA1/BRCA2-related cancer risk, Lynch syndrome, hereditary colorectal polyposis, Li-Fraumeni syndrome, PTEN hamartoma tumor syndrome, hereditary diffuse gastric cancer, pancreatic cancer predisposition, prostate cancer predisposition, renal/endocrine tumor predisposition.Read More
Test code About the Report Genes covered Top Conditions Covered
21226 A whole exome based virtual panel focusing on ophthalmic genetics, covering genes associated with inherited eye disease, especially retinal dystrophy and syndromic ocular disorders. The report supports diagnosis, prognosis, family counseling, syndromic surveillance, and trial or therapy eligibility assessment where relevant.Read More ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ACO2, ACTB, ACTG1, ACVR1, ADAM9, ADAMTS10, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1, AFG3L2, AGBL1, AGBL5, AGK, AGPS, AHI1, AHR, AIPL1, ALDH18A1, ALDH1A3, ALDH8A1, ALG3, ALMS1, AP3B1, APTX, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARSG, ASB10, ATF6, ATOH7, ATXN7, AUH, B3GLCT, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BMP7, C12orf57, C1QTNF5, C2CD3, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CBS, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP290, CEP41, CERKL, CFAP410, CFAP418, CFH, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2, CISD2, CLCC1, CLCN7, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL1A1, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, COX7B, CPLANE1, CRB1, CRIM1, CRX, CRYAA, CRYAB, CRYB1, CRYB3, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNA1, CTNNB1, CTSD, CWC27, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DCN, DGUOK, DHCR7, DHDDS, DHX38, DKC1, DNA2, DNAJC19, DNM1L, DNM3, DPYD, DRAM2, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, EMC1, ENPP1, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ESX1, EYA1, EYS, FADD, FAM111A, FAM161A, FBN1, FDXR, FLVCR1, FNBP4, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, FZD5, GALE, GALK1, GALT, GBA1, GCNT2, GDF3, GDF6, GFER, GJA1, GJA3, GJA8, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HESX1, HEXA, HGSNAT, HK1, HKDC1, HLCS, HMCN1, HMGB3, HMX1, HOXA1, HOXB1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA2, HYCC1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IGBP1, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, JAM3, KAT6B, KCNJ13, KCNV2, KERA, KIAA0586, KIAA1549, KIF11, KIF21A, KIF3B, KIF7, KIT, KIZ, KLHL7, KMT2D, KRT12, KRT3, LAMB2, LCA5, LCAT, LEMD2, LEP, LEPR, LIM2, LMX1B, LOXL1, LRAT, LRIT3, LRMDA, LRP2, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MAN2B1, MC1R, MERTK, MFN2, MFRP, MFSD8, MIF, MIP, MIR184, MITF, MKKS, MKS1, MLPH, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTRFR, MTTP, MVK, MYC, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NEK2, NEUROD1, NF2, NHS, NMNAT1, NOTCH2, NPHP1, NPHP3, NPHP4, NR0B2, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OSTM1, OTX2, P3H2, PANK2, PAX2, PAX3, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHF6, PHOX2A, PHYH, PIGL, PIK3R5, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PMM2, PNKP, PNPLA6, POC1B, POLG, POLG2, POLR1C, POLR1D, POMC, POMGNT1, PORCN, PPARG, PPT1, PQBP1, PRCD, PRDM5, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RB1, RBP3, RBP4, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SALL1, SALL2, SALL4, SBF2, SC5D, SCLT1, SDCCAG8, SEC23A, SEMA3E, SEMA4A, SERAC1, SETX, SH3PXD2B, SHH, SIL1, SIX3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A4, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC45A2, SLC4A11, SLC4A4, SLC52A2, SLC7A14, SLC9A6, SMCHD1, SMOC1, SNAI2, SNRNP200, SNX10, SOX10, SOX2, SPATA7, SPG7, SRD5A3, STRA6, TACSTD2, TBC1D20, TBC1D32, TBK1, TBX22, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TFAP2A, TGFBI, TIMM50, TIMM8A, TIMP3, TK2, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TMEM98, TMX3, TNFRSF11A, TNFSF11, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB3, TUBGCP4, TUBGCP6, TULP1, TWNK, TYMP, TYR, TYRP1, UBIAD1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, YAP1, ZEB1, ZEB2, ZIC2, ZNF408, ZNF423, ZNF513Read More Inherited retinal dystrophy, retinitis pigmentosa, cone-rod dystrophy, macular dystrophy, Leber congenital amaurosis, optic atrophy, congenital cataract, glaucoma, corneal dystrophy, microphthalmia/anophthalmia, syndromic ocular disease.Read More
Test code About the Report Genes covered Top Conditions Covered
21101 A whole-exome data-delivery product for expert users, research groups, academic centers, or bioinformatics teams who require FASTQ and/or VCF files from the exome sequencing run. This product is intended for customers who will perform their own analysis and interpretation rather than receiving a clinic-ready interpreted report.Read More Whole-exome data file delivery; no fixed panel list. Case-dependent; applicable to research workflows, internal bioinformatics analysis, custom variant review, and institutional exome interpretation pipelines.