ExoSeq® by Product

Request a Test

Products

Product Details

Test code About the Report Genes covered
21102 Whole Exome Sequencing with basic clinical report Covering around 20,000 genes
Test code About the Report Genes covered Top Conditions Covered
21227 Autism- Covering more than 250 genes ACTB ADNP ADSL AHDC1 ALDH5A1 ANK2 ANK3 ANKRD11 AP1S2 AP2S1 ARHGEF6 ARHGEF9 ARID1B ARX ASH1L ASXL3 ATP10A ATP2B4 ATRX AUTS2 AVPR1A BAZ2B BCKDK BCL11A BDNF BRAF BRSK2 C12orf57 CACNA1C CACNA2D3 CASK CASKIN1 CC2D1A CDC42BPB CDKL5 CHAMP1 CHD2 CHD3 CHD7 CHD8 CIC CNOT3 CNTN6 CNTNAP2 CNTNAP5 CREBBP CSDE1 CSNK2A1 CTCF CTNNB1 CTNND2 CTTNBP2 CUL3 DDX3X DEAF1 DHCR7 DISC1 DLG4 DLGAP2 DLL1 DMD DNMT3A DOCK4 DPP10 DPP6 DPYD DSCAM DYNC1H1 DYRK1A EBF3 EFR3A EHMT1 EP300 FAAH2 FGD1 FMR1 FOLR1 FOX2 FOXG1 FOXP1 FOXP2 GABRA1 GABRB3 GAMT GATM GIGYF1 GRIN2B GRIP1 GRPR GSPT2 HCN1 HIVEP2 HNRNPH2 HNRNPU HOXA1 HPRT1 HRAS HUWE1 IL1RAPL1 IMMP2L IQSEC2 IRF2BPL KANSL1 KATNAL2 KCNB1 KCNMA1 KCNQ3 KCTD13 KDM3B KDM5B KDM5C KDM6B KIRREL3 KMT2A KMT2C KMT2E KMT5B KRAS L1CAM LAMC3 MAGEL2 MAOA MBD5 MBOAT7 MECP2 MED12 MED13 MED13L MED23 MEF2C MEIS2 MET MID1 MYT1L NAA15 NACC1 NBEA NDP NEGR1 NEXMIF NF1 NFIX NHS NIPBL NLGN3 NLGN4X NR4A2 NRXN1 NRXN3 NSD1 NSDHL NTNG1 OCRL OPHN1 PACS1 PAFAH1B1 PCDH19 PCDH9 PDE10A PDE4D PHF21A PHF3 PHF6 PIK3CA PIP5K1B PLXNA1 PNKP POGZ POMGNT1 PON3 PPP1CB PPP2R5D PQBP1 PRR12 PSMD12 PTCHD1 PTEN PTPN11 RAB39B RAD21 RAF1 RAI1 RBFOX1 RELN RERE RFX3 RORA RORB RPL10 RPS6KA3 SATB2 SCN1A SCN2A SCN8A SETBP1 SETD2 SETD5 SGSH SHANK2 SHANK3 SIN3A SKI SLC16A2 SLC6A1 SLC6A4 SLC9A6 SLC9A9 SMAD4 SMARCC2 SMC1A SMG6 SNRPN SON SOX5 SPAST ST7 STK3 STXBP1 STXBP5 SYNGAP1 TANC2 TAOK1 TBC1D20 TBCK TBL1XR1 TBR1 TCF20 TCF4 TCF7L2 TLK2 TNRC6B TRAF7 TRIO TRIP12 TSC1 TSC2 TSHZ3 UBE3A UPF3B VEZF1 VPS13B WAC WDFY3 ZBTB20 ZEB2 ZMYND11 ZNF292 ZNF407 ZNF462 ZNF507 ZNF804A ZNHIT6Read More Autism
Test code About the Report Genes covered Top Conditions Covered
21204 Comprehensive cardiac diseases- Covering more than 780 genes 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 LRP6 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 GBA 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 ISPD 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 LARGE LARGE1 LARS2 LCAT LDB3 LDLR LDLRAP1 LEFTY2 LEMD2 LIAS LIPA LIPI LIPT1 LMF1 LMNA LMOD2 LONP1 LOX LPL 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 MTFMT MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTO1 MTPAP MTRFR 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 MTTP MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY 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 TDN 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 ZNF469 Read More Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Restrictive Cardiomyopathy, Left Ventricular Non-Compaction Syndrome (LVNC), Long QT Syndrome (LQTS), Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Short QT Syndrome (SQTS), Sudden Arrhythmic Death Syndrome (SADS), Jervell Lange-Nielsen syndrome, Marfan Syndrome Read More
Test code About the Report
21108 Carrier Screening for pathogenic and likely pathogenic variants (VUS when appropriate). This product is suitable for healthy individuals for screening purposes ONLY. It is not appropriate for diagnostic purposes.
Test code About the Report Genes covered Top Conditions Covered
21211 Dermatological conditions- Covering more than 250 genes AAGAB ABCA12 ABCA3 ABCC6 ABHD5 ACD ACTA2 ADAMTS2 ADAMTSL2 AEBP1 AGPAT2 AK2 ALDH18A1 ALOX12B ALOXE3 AP1S1 AP3B1 AP3D1 AQP5 ARHGAP31 ATP2C1 ATP6AP1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3 B4GALT7 BAP1 BCS1L BGN BLM BLOC1S3 BLOC1S6 BRCA1 BRCA2 BSCL2 C10ORF11 C1R C1S CBS CDH3 CDK4 CDKN2A CDSN CERS3 CHST14 CHST3 CLDN1 COL11A1 COL12A1 COL17A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A2 COL6A3 COL7A1 CRTAP CSTA CTC1 CTSC CYP4F22 DDB2 DKC1 DLL4 DOCK6 DSE DSG1 DSG2 DSG4 DSP DST DTNBP1 EDA EDAR EDARADD EDN3 EDNRB EFEMP2 EFEM2 ELN ENPP1 EOGT ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EVC EVC2 EXPH5 FBLN5 FBN5 FBN1 FBN2 FERMT1 FKBP14 FLNA FLNB GGCX GJB2 GJB GJB4 GJB6 GORAB GPR143 GRIP1 HOXC13 HPS1 HPS3 HPS4 HPS5 HPS6 HR IFT122 ITGA3 ITGA6 ITGB4 JUP KCTD1 KIT KITLG KLHL24 KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KR6B KRT6C KRT9 RT9 LAMA3 LAMB3 LAMC2 LIPN LMNA LOR LOX LRP6 LTBP4 TBP4 LYST LZTR1 LZTS1 MBTPS2 MC1R MITF MLPH MPLKIP MYO5A NAF1 NF1 NF2 NHP2 NIPAL4 NOP10 NOTCH1 OCA2 P3H1 PARN PAX3 PAX9 PKP1 PLEC PLOD1 PLP1 PNPLA1 POLH POMP PORCN POT1 PRDM5 PRKD1 PTCH1 PTCH2 PTEN PTPN11 PVRL4 PYCR1 RAB27A RAF1 RBPJ RECQL4 RIN2 RMRP ROBO3 RTEL1 SERPINB7 SFTPB SFTPC SKI SLC24A5 SLC27A4 SLC2A10 SLC30A2 SLC38A8 SLC39A13 SLC39A4 SLC45A2 SLURP1 SMAD2 SMAD3 SMARCAD1 SMARCB1 SMO SNAI2 SOX10 SPARC SPRED1 ST14 SUFU TCS2 TERC TERT TGFB2 TGFB3 TGFBR1 TGFBR2 TGM1 TGM5 TINF2 TNFRSF1A TNXB TP53 TP63 TRPV3 TSC1 TYR TYRP1 UBR1 USB1 WDR35 WNT10A WRAP53 WRN RN XPA XPC ZMPSTE24 ZNF469 Read More Ichthyosis and related disorders, Albinism, Xeroderma Pigmentosum, Hereditary Melanoma and Skin Cancer, Cutis Laxa, Neurofibromatosis, Palmoplantar Keratoderma, Ehlers-Danlo Syndrome, Ectodermal Dysplasia, Epidermolysis Bullosa, Progeria and Progeroid Syndromes, Dyskeratosis Congenita, Hereditary Acrodermatitis Enteropathica, Tuberous Sclerosis, Waardenburg Syndrome, Hermansky-Pudlack Syndrome, Pachyonychia Congenita, Adams-Oliver Syndrome, Marfan Syndrome Read More
Test code About the Report Genes covered Top Conditions Covered
21221 Developmental, Metabolic, Neurological and Muscular disorders - Covering more than 1200 genes A2ML1 AAAS AARS AARS2 ABCA1 ABCB4 ABCB7 ABCC6 ABCC8 ABCC9 ABCD1 ABCD3 ABCD4 ABHD12 ACAD8 ACAD9 ACADL ACADM ACADS ACADSB ACADVL ACAT1 ACO2 ACOX1 ACSF3 ACTA1 ACTA2 ACTB ACTC1 ACTN2 ACVR2B ACVRL1 ACY1 ADA ADA2 ADAMTS2 ADAMTSL2 ADAR ADCY6 ADK ADNP ADSL AFG3L2 AGA AGK AGL AGPAT2 AGPS AGTPBP1 AGXT AHCY AHDC1 AIFM1 AKAP9 AKT2 ALAD ALAS2 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALMS1 ALPK3 AMACR AMN AMPD1 AMT ANK2 ANKRD1 ANKRD11 ANO10 ANO5 ANTXR2 AP1S1 AP4E1 AP4S1 AP5Z1 APOA1 APOA5 APOB APOPT1 APRT APTX ARG1 ARHGEF10 ARID1A ARID1B ARSA ARSB ASAH1 ASH1L ASL ASPA ASS1 ASXL3 ATIC ATL1 ATL3 ATM ATP13A2 ATP1A1 ATP1A3 ATP5A1 ATP5E ATP6V0A2 ATP7A ATP7B ATPAF2 ATRX AUH AUTS2 B2M B3GALNT2 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 BAG3 BBS10 BCKDHA BCOR BCS1L BICD2 BIN1 BMPR2 BOLA3 BRAF BRPF1 BSCL2 BSND BTD C12ORF65 C19orf12 C1R C1S CA5A CACNA1A CACNA1C CACNA1S CACNA2D1 CACNA2D4 CACNB2 CALM1 CALM2 CALM3 CALR3 CAPN3 CARS2 CASK CASQ1 CASQ2 CASR CASZ1 CAV1 CAV3 CAVIN1 CAVIN4 CBL CBLIF CBS CCDC103 CCDC39 CCDC40 CCT5 CD320 CD59 CDH2 CDK13 CDKL5 CFL2 CHAMP1 CHCHD10 CHD2 CHD7 CHD8 CHKB CHRM2 CIDEC CLCF1 CLCN1 CLCNKB CLDN16 CLDN19 CLN3 CLN5 CLN6 CLN8 CLPB CNNM2 CNNM4 CNTN1 CNTNAP1 COA5 COA6 COA7 COASY COG1 COG4 COG5 COG6 COG7 COG8 COL11A1 COL11A2 COL12A1 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A2 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COQ2 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 COX10 COX14 COX15 COX20 COX6A1 COX6B1 COX8A CPOX CPS1 CPT1A CPT2 CREBBP CRELD1 CRLF1 CRYAB CSRP3 CTCF CTDP1 CTF1 CTH CTNNA3 CTNNB1 CTNS CTSA CTSC CTSD CTSK CUBN CYC1 CYP27A1 CYP2U1 CYP7B1 D2HGDH DAG1 DAG1DES DARS2 DBH DBT DCAF8 DCTN1 DDHD1 DDHD2 DDOST DDX3X DEGS1 DEPDC5 DES DGUOK DHCR7 DHDDS DHH DHODH DHTKD1 DLAT DLD DMD DNA2 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH11 DNAH5 DNAI1 DNAI2 DNAJB2 DNAJB6 DNAJC11 DNAJC12 DNAJC19 DNAJC3 DNAL1 DNM DNM1L DNM2 DNMT1 DNMT3A DOLK DPAGT1 DPM1 DPM2 DPM3 DPYD DPYS DRP2 DSC2 DSG2 DSP DST DTNA DYM DYNC1H1 DYRK1A DYSF EARS2 EBF3 EBP ECHS1 EEF1A2 EFEMP2 EFTUD2 EGF EGR2 EHMT1 ELAC2 ELN ELP1 EMD ENG ENO3 ENPP1 EP300 EPG5 EPM2A ERBB3 ERCC6 ERCC8 ERLIN2 ETFA ETFB ETFDH ETHE1 EYA4 FA2H FAH FAM111A FAM126A FAM134B FARS2 FASTKD2 FBLN5 FBN1 FBN2 FBP1 FBXL4 FBXO32 FBXO38 FDX1L FDX2 FECH FGD4 FGF14 FH FHL1 FHL2 FHOD3 FIG4 FKBP14 FKRP FKTN FLAD1 FLNA FLNB FLNC FLVCR1 FMO3 FMR1 FOLR1 FOXD4 FOXG1 FOXH1 FOXP1 FOXRED1 FUCA1 FUT8 FXN FXYD2 G6PC GAA GABRA1 GABRB3 GALC GALE GALK1 GALNS GALT GAMT GAN GARS GARS1 GATA2 GATA4 GATA5 GATA6 GATAD1 GATM GBA GBA2 GBE1 GCDH GCH1 GCK GCSH GDAP1 GDF1 GFER GFM1 GFM2 GJA1 GJA5 GJB1 GJB3 GJC2 GLA GLB1 GLDC GLRX5 GLUD1 GLUL GM2A GMPPA GMPPB GNAO1 GNB4 GNE GNMT GNPAT GNPTAB GNPTG GNS GOLGA2 GPC3 GPD1L GPHN GRIN2B GSK3B GSN GTPBP3 GUSB GYG1 GYG2 GYS1 GYS2 HADH HADHA HADHB HAMP HAND1 HARS1 HARS2 HCFC1 HCN4 HDAC8 HEXA HEXB HFE HGD HGSNAT HIBCH HINT1 HINT2 HJV HK1 HLCS HMBS HMGCL HMGCS2 HNF1A HNF1B HNF4A HNRNPDL HNRNPU HPD HPRT1 HRAS HSD17B10 HSD17B4 HSPB1 HSPB3 HSPB8 HSPD1 HTRA2 HUWE1 HYAL1 IARS2 IARSA2 IBA57 IDH2 IDS IDUA IFIH1 IGHMBP2 IKBKAP ILK INF2 INPP5K INSR INVS IQSEC2 ISCA2 ISCU ISPD ITGA7 ITPR1 IVD JAG1 JPH2 JUP KANSL1 KARS KAT6A KAT6B KBTBD13 KCNA1 KCNA2 KCNA5 KCNB1 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ10 KCNJ11 KCNJ2 KCNJ5 KCNJ8 KCNK3 KCNQ1 KCNQ2 KCNQ3 KCNT1 KDM5C KDM6A KIAA0196 KIF1A KIF1B KIF5A KLHL24 KLHL40 KLHL41 KMT2A KMT2D KRAS L1CAM L2HGDH LAMA2 LAMA4 LAMA5 LAMP2 LARGE LARGE1 LARS LARS2 LCT LDB3 LDHA LDLR LDLRAP1 LEFTY2 LEMD2 LIAS LIMS2 LIPA LIPE LIPT1 LITAF LMBRD1 LMNA LMOD2 LMOD3 LPIN1 LRPPRC LRRC10 LRSAM1 LYRM4 LYRM7 LYST LZTR1 MAF MAGT1 MAN2B1 MANBA MAP2K1 MAP2K2 MAP3K20 MAP3K8 MARS MARS2 MCCC1 MCCC2 MCEE MCM3AP MCOLN1 MECP2 MED12 MED13L MED25 MEF2C MEGF10 MFAP5 MFF MFN2 MFSD8 MGAT2 MGME1 MIB1 MICU1 MIPEP MKS1 MLYCD MMAA MMAB MMADHC MME MMP21 MMUT MOCOS MOCS1 MOCS2 MOGS MORC2 MPC1 MPDU1 MPI MPV17 MPZ MRPL12 MRPL3 MRPL44 MRPS16 MRPS22 MRPS7 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MTFMT MTHFR MTM1 MTMR2 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTO1 MTOR MTPAP MTR MT-RNR1 MT-RNR2 MTRR 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 MTTP MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY MYBPC3 MYH11 MYH14 MYH3 MYH6 MYH7 MYL2 MYL3 MYL4 MYLK MYLK2 MYO18B MYOM1 MYOT MYOZ2 MYPN MYRF MYT1L NAA10 NAGA NAGLU NAGS NALCN NARS2 NBAS 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 NEBL NEFH NEFL NEK8 NEU1 NEXN NF1 NFU1 NGF NGLY1 NHLRC1 NIPA1 NIPA2 NKX2-5 NKX2-6 NME8 NODAL NONO NOS1AP NOTCH1 NOTCH2 NPC1 NPC2 NPHP3 NPPA NR2F1 NR2F2 NRAP NRAS NSD1 NSUN2 NT5C3A NTR NTRK1 NUBPL OAT OBSCN OFD1 OPA1 OPA3 OPHN1 OTC OXCT1 PABPN1 PACS1 PAH PANK2 PARS2 PC PCBD1 PCCA PCCB PCDH19 PCK1 PCSK9 PDHA1 PDHB PDHX PDK3 PDLIM3 PDP1 PDSS1 PDSS2 PDX1 PDYN PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKB PHKG2 PHYH PKD1L1 PKP2 PLA2G6 PLEC PLEKHG5 PLEKHM2 PLIN1 PLN PLOD1 PLP1 PMM2 PMP2 PMP22 PNKP PNP PNPLA2 PNPLA3 PNPLA6 PNPT1 POGLUT1 POGZ POLG POLG2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPA2 PPARG PPCS PPOX PPP1CB PPP2R5D PPT1 PRDM12 PRDM16 PRKAG2 PRKAG3 PRKCG PRKG1 PRNP PRODH PRPS1 PRRT2 PRX PSAP PSEN2 PTEN PTF1A PTPN11 PTRH2 PTS PURA PUS1 PYGL PYGM PYROXD1 QARS QDPR QRSL1 RAB7A RAF1 RAI1 RANGRF RARS RASA2 RBCK1 RBM20 REEP1 REN RETREG1 RFT1 RIT1 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RPS6KA3 RRAS RRM2B RTN2 RYR1 RYR2 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 SETD5 SETX SFXN4 SGCA SGCB SGCD SGCG SGSH SH3TC2 SHANK3 SHOC2 SI SIGMAR1 SIL1 SKI SLC12A3 SLC12A6 SLC16A1 SLC16A2 SLC17A5 SLC19A2 SLC19A3 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A26 SLC25A3 SLC25A38 SLC25A4 SLC25A46 SLC2A1 SLCA1 SLC2A1 SLC2A10 SLC2A2 SLC30A10 SLC33A1 SLC35A1 SLC35A2 SLC35C1 SLC37A4 SLC39A13 SLC39A4 SLC3A1 SLC40A1 SLC46A1 SLC52A2 SLC52A3 SLC5A1 SLC5A7 SLC6A1 SLC6A19 SLC6A8 SLC6A9 SLC7A7 SLC7A9 SLMAP SMAD3 SMAD4 SMAD6 SMAD9 SMARCA2 SMARCA4 SMC1A SMCHD1 SMN1 SMN2 SMPD1 SNAP29 SNTA1 SOD1 SOS1 SOS2 SOX10 SPAST SPEG SPG11 SPG20 SPG21 SPG7 SPRED1 SPTAN1 SPTBN4 SPTLC1 SPTLC2 SPTLC3 SRD5A3 SSR4 STAC3 STT3A STT3B STXBP1 SUCLA2 SUCLG1 SUGCT SUMF1 SUOX SURF1 URF1 SYNE1 SYN1 SYNGAP1 SYT2 TAB2 TACO1 TALDO1 TANGO2 TARS2 TAT TAZ TBC1D4 TBL1XR1 TBX1 TBX20 TBX5 TCAP TCF4 TCN2 TDN TDP1 TECPR2 TFAM TFG TFR2 TR2 TGFB2 TGFB3 TGFBR1 TGFBR2 TIA1 TIM32 TIMM8A TK2 TMEM126A TMEM126B TMEM165 TMEM43 TMM43 TMEM70 TMPO TNNC1 TNNI3 TNNI3K TNNT1 TNNT2 TNPO3 TNXB TOR1AIP1 TPK1 TPM1 TPM2 TPM3 TPMT TPP1 TRAPPC11 TRDN TREX1 TRIM2 TRIM32 TRIM37 TRIO TRIT1 TRMT10C TRMU TRNT1 TRPA1 TRPM4 TRPM6 TRPV4 TSFM TSM TTC19 TTC8 TTN TN TTPA TTR TUBB3 TUFM TUSC3 TWNK TXNRD2 TYMP UBA1 UBE3A UCP2 UMOD UMPS UPB1 UQCC2 UQCC3 UQCRB UQCRC2 UQCRQ UROD UROS USP9X VAPB VARS2 VCL VCP VMA21 VP VPS13A VPS13B VPS37A VRK1 WAC WARS1 WASHC5 WDR45 WFS1 WS1 WNK1/HSN2 XDH XK XPA XPC XRCC1 YARS1 YARS2 YWHAE ZC4H2 ZEB2 ZFPM2 ZFYVE26 ZFYVE27 ZIC3 ZMPSTE24 ZNF469 ANG ANXA11 ARHGEF28 ATXN2 C9orf72 CFAP410 CHMP2B DAO ERBB4 FUS HNRNPA1 HNRNPA2B1 MATR3 MOBP OPTN PFN1 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2 UNC13A SLC18A2 Read More Phenylketonuria, Gaucher Disease, Hurler Syndrome, Niemann-Pick Disease, Glucose-Galactose Malabsorption, Tay-Sachs Disease, Fabry Disease, Krabbe Disease, Galactosemia, Maple Syrup Urine Disease, Glycogen Storage Disease, Zellweger Syndrome, Adrenoleukodystrophy, Wilson Disease, Ornithine Transcarbamylase Deficiency, Hemochromatosis Androgen insensitivity syndrome (AIS), Persistent Mullerian duct syndrome (PMDS), Congenital adrenal hyperplasia (CAH), 46,XY Disorders of Sex Development (46,XY DSD), 46,XX Disorders of Sex Development (46,XX DSD), 46,XY Complete Gonadal Dysgenesis (46,XY CGD), 46,XY Sex Reversal syndrome (46,XY SRS), Congenital adrenal hyperplasia (CAH), Combined pituitary hormone deficiency (CPHD), Kallmann syndrome, Peters-plus syndrome, STAR syndrome, Filippi syndrome, CHARGE syndrome, Methemoglobinemia and ambiguous genitalia, Fraser syndrome, Johanson-Blizzard syndrome Charcot-Marie-Tooth Disease (CMT), Hereditary Motor Neuropathy, Hereditary Sensory and Autonomic Neuropathy, Andermann Syndrome, Small Fiber Neuropathy, Riboflavin Transporter Deficiency Neuronopathy, Hereditary Transthyretin-Mediated Amyloidosis, Spinal Muscular Atrophy (SMA), Cowchock Syndrome, Familial Dysautonomia, Giant Axonal Neuropathy, Spinocerebellar Ataxia, Neurofibromatosis, Tourette's syndrome, Wilsons’s disease, Marfan Syndrome Read More
Test code About the Report Genes covered Top Conditions Covered
21228 Endocrine conditions-Covering more than 470 genes 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 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 G6PC 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 -ATP6 MT-ATP8 -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 CSK PCSK9 PDE11A PDE4D PDE8B PDX1 PEX1 PFKM PGAM2 PGM1 PHGDH PHKA1 PHKA2 PHKB PHKG2 PIK3R1 PITX2 PMM2 PNPO POLD1 POLR3B POMC* POR POU1F1 PPARG PPP1R15B PRKAG2 PRKAR1A PROK2 PROKR2* PROP1 POP1 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 TAZ 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 *Less than optimal coverage on the gene Read More Monogenic Diabetes (Comprehensive coverage),Kallman Syndrome,Hypoglycemia and Hyperinsulinism,Premature Ovarian Failure,Maturity Onset Diabetes of the Young (MODY),Abnormal Genitalia/ Disorders of Sex Development,Congenital Adrenal Hyperplasia, Hyperlipidemia,Congenital Hypothyroidism and Thyroid Hormone Resistance,Glucocorticoid Deficiency,Hyperparathyroidism,Hypomagnesemia Read More
Test code About the Report Genes covered Top Conditions Covered
21218 Female Infertility & Comprehensive Inflammatory and Autoinflammatory panel- Covering more than 390 genes... ACP5* ADAM17 ADAR AGER ALOX12 ALOX15 ALOX5 AREG ARG1 ATF2* BCL2L1* BCL6* BIRC2* C1QA* C1QB* C1R C1S* C2 C3 C3AR1 C4A C5 C6 C7 C8A C8B C9 CARD14* CCL11 CCL13 CCL16 CCL17* CCL19 CCL2 CCL20 CCL21 CCL22 CCL23 CCL24* CCL3 CCL4 CCL5 CCL7 CCL8 CCR1* CCR2* CCR3* CCR4* CCR7 CD163 CD4 CD40 CD40LG CD55 CD86 CDC42* CEBPB CECR1 CFB CFD CFL1* COPA CREB1* CRP CSF1* CSF2 CSF3 CXCL1 CXCL10 CXCL2 CXCL3 CXCL5 CXCL6 CXCL9 CXCR1* CXCR2* CXCR4 CYSLTR1* CYSLTR2 DAXX DDIT3* DDX58 DEFA1* DNASE1L3* DNASE2 ELANE* ELK1 FASLG FLT1 FOS FXYD2* GNAQ GNAS GNB1* GNGT1* GRB2* HDAC4 HIF1A HLA-DRA* HLA-DRB1 HMGB1* HMGB2* HMGN1 HRAS* HSH2D* HSPB1 HSPB2 IFI44* IFIH1 IFIT1 IFIT2 IFIT3 IFNA1 IFNB1 IFNG IL10 IL10RA IL10RB IL11 IL12A IL12B* IL13 IL15* IL17A IL18* IL18RAP* IL1A* IL1B* IL1R1* IL1RAP* IL1RN IL2 IL21 IL22* IL22RA2* IL23A IL23R IL3 IL36RN* IL4 IL5 IL6* IL6R IL7 IL8 IL9 IRF1 IRF3* IRF5* IRF7 ISG15 ITGB2* JAK1 JUN KEAP1* KNG1 LIMK1 LPIN2 LTA* LTB LTB4R* LTB4R2* LY96 MAFF* MAFG* MAFK MAP2K1 MAP2K4 MAP2K6 MAP3K1 MAP3K5 MAP3K7 MAP3K9 MAPK1* MAPK14 MAPK3* MAPK8 MAPKAPK2 MAPKAPK5 MASP1 MASP2 MAX MBL2 MEF2A* MEF2BNB-MEF2B MEF2C* MEF2D* MEFV MKNK1 MMP3 MMP9 MRC1 MVK MX1* MX2 MYC MYD88 MYL2 NFATC3 NFE2L2 NFKB1 NLRC4* NLRP1 NLRP12 NLRP3 NOD1* NOD2 NOS2 NOX1 NR3C1* OAS2 OASL OTULIN OXER1 PDGFA PIK3C2G PLA2G4A PLCB1 PLCG2 POMP PPP1R12B PRG4 PRKCA PRKCB PSENEN PSMB4 PSMB8 PSTPIP1 PTGDR2* PTGER1* PTGER2 PTGER3 PTGER4* PTGFR* PTGIR* PTGS1 PTGS2 PTK2 RAC1 RAF1 RAPGEF2 RELA RELB RHOA* RIPK1 RIPK2 RNASEH2A RNASEH2B RNASEH2C ROCK2 RPS6KA5 SAMHD1 SHC1 SLC29A3 SMAD7 STAT1 STAT2 STAT3 TBXA2R* TCF4 TGFB1 TGFB2 TGFB3 TGFBR1 TLR1* TLR2 TLR3* TLR4 TLR5* TLR6* TLR7* TLR8 TLR9 TMEM173* TNF TNFAIP3* TNFRSF1A TNFSF14* TOLLIP TRADD* TRAF2 TREM2 TREX1 TRNT1* TSLP TTC7A TWIST2* TYROBP UBA1 *Some exons may have less than optimal coverage AIRE, AKR1C4#, ANOS1, AR, ARL6, ARX, ATRX, AXL, BBS1, BBS10, BBS12#, BBS2, BBS4, BBS5, BBS7, BBS9, BMP15, CBX2, CCDC141, CHD7, CLPP, CYP11A1, CYP17A1, CYP19A1, CYP21A2, DHH, DMRT1, DMRT2#, DUSP6, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, F2, F5, FEZF1, FGF17, FGF8, FGFR1, FGFR2, FIGLA, FLRT3, FMR1, FOXL2*, FSHB, FSHR, GALT, GNRH1, GNRHR, HESX1, HFE, HFM1, HOXA13, HS6ST1, HSD17B3, IL17RD, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LMNA, MAMLD1, MAP3K1, MCM8, MCM9, MKKS, MTHFR, NOBOX, NR0B1, NR3C1, NR5A1, NSMF, NUP107, PADI6, PCSK1, POR, PRLR#, PROK2, PROKR2, PROP1, PSMC3IP, RSPO1#, SEMA3A, SEMA3E, SOHLH1, SOX10, SOX2, SOX3, SOX9, SPRY4, SRA1, SRD5A2, SRY, STAG3, STAR, SYCE1, TAC3, TACR3, TRIM32, TTC8, TUBB8, WDR11, WNT4, WT1, WWOX, ZP1 *FOXL2 testing does not include repeat expansion. #Some exons have less than optimal coverage Read More Pituitary Hormone Deficiency, Combined Premature Ovarian Failure, Mullerian Aplasia and Hyperandrogenism, Adrenal Insufficiency, Oocyte Maturation Defect, Ovarian Dysgenesis, Hypogonadotropic Hypogonadism with or without anosmia, Hand-foot-uterus Syndrome, Campomelic Dysplasia with autosomal sex reversal, 46,XY sex reversal Read More
Test code About the Report Genes covered Top Conditions Covered
21217 Male Infertility & Comprehensive Inflammatory and Autoinflammatory panel- Covering more than 400 genes ACP5* ADAM17 ADAR AGER ALOX12 ALOX15 ALOX5 AREG ARG1 ATF2* BCL2L1* BCL6* BIRC2* C1QA* C1QB* C1R C1S* C2 C3 C3AR1 C4A C5 C6 C7 C8A C8B C9 CARD14* CCL11 CCL13 CCL16 CCL17* CCL19 CCL2 CCL20 CCL21 CCL22 CCL23 CCL24* CCL3 CCL4 CCL5 CCL7 CCL8 CCR1* CCR2* CCR3* CCR4* CCR7 CD163 CD4 CD40 CD40LG CD55 CD86 CDC42* CEBPB CECR1 CFB CFD CFL1* COPA CREB1* CRP CSF1* CSF2 CSF3 CXCL1 CXCL10 CXCL2 CXCL3 CXCL5 CXCL6 CXCL9 CXCR1* CXCR2* CXCR4 CYSLTR1* CYSLTR2 DAXX DDIT3* DDX58 DEFA1* DNASE1L3* DNASE2 ELANE* ELK1 FASLG FLT1 FOS FXYD2* GNAQ GNAS GNB1* GNGT1* GRB2* HDAC4 HIF1A HLA-DRA* HLA-DRB1 HMGB1* HMGB2* HMGN1 HRAS* HSH2D* HSPB1 HSPB2 IFI44* IFIH1 IFIT1 IFIT2 IFIT3 IFNA1 IFNB1 IFNG IL10 IL10RA IL10RB IL11 IL12A IL12B* IL13 IL15* IL17A IL18* IL18RAP* IL1A* IL1B* IL1R1* IL1RAP* IL1RN IL2 IL21 IL22* IL22RA2* IL23A IL23R IL3 IL36RN* IL4 IL5 IL6* IL6R IL7 IL8 IL9 IRF1 IRF3* IRF5* IRF7 ISG15 ITGB2* JAK1 JUN KEAP1* KNG1 LIMK1 LPIN2 LTA* LTB LTB4R* LTB4R2* LY96 MAFF* MAFG* MAFK MAP2K1 MAP2K4 MAP2K6 MAP3K1 MAP3K5 MAP3K7 MAP3K9 MAPK1* MAPK14 MAPK3* MAPK8 MAPKAPK2 MAPKAPK5 MASP1 MASP2 MAX MBL2 MEF2A* MEF2BNB-MEF2B MEF2C* MEF2D* MEFV MKNK1 MMP3 MMP9 MRC1 MVK MX1* MX2 MYC MYD88 MYL2 NFATC3 NFE2L2 NFKB1 NLRC4* NLRP1 NLRP12 NLRP3 NOD1* NOD2 NOS2 NOX1 NR3C1* OAS2 OASL OTULIN OXER1 PDGFA PIK3C2G PLA2G4A PLCB1 PLCG2 POMP PPP1R12B PRG4 PRKCA PRKCB PSENEN PSMB4 PSMB8 PSTPIP1 PTGDR2* PTGER1* PTGER2 PTGER3 PTGER4* PTGFR* PTGIR* PTGS1 PTGS2 PTK2 RAC1 RAF1 RAPGEF2 RELA RELB RHOA* RIPK1 RIPK2 RNASEH2A RNASEH2B RNASEH2C ROCK2 RPS6KA5 SAMHD1 SHC1 SLC29A3 SMAD7 STAT1 STAT2 STAT3 TBXA2R* TCF4 TGFB1 TGFB2 TGFB3 TGFBR1 TLR1* TLR2 TLR3* TLR4 TLR5* TLR6* TLR7* TLR8 TLR9 TMEM173* TNF TNFAIP3* TNFRSF1A TNFSF14* TOLLIP TRADD* TRAF2 TREM2 TREX1 TRNT1* TSLP TTC7A TWIST2* TYROBP UBA1 *Some exons may have less than optimal coverage ACTL9, ADGRG2, AIRE, AKR1C4#, AMH, AMHR2, ANOS1, AR, ARL6, ARMC2, ARX, ATRX, AURKC, AXL, BBS1, BBS10, BBS12#, BBS2, BBS4, BBS5, BBS7, BBS9, BRDT#, C14orf39, CATSPER1, CBX2, CCDC141, CEP112, CFAP251, CFAP43, CFAP44, CFAP47, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, CHD7, CYP11A1, CYP17A1, CYP19A1, DHH, DMRT1, DMRT2#, DNAH1, DNAH10, DNAH17, DNAH2, DNAH6, DNAH8, DNAI1, DPY19L2, DUSP6, DZIP1, FANCM, FEZF1, FGF17, FGF8, FGFR1, FGFR2, FLRT3, FOXL2, FSHB, FSHR, FSIP2, GALNTL5, GATA4, GNRH1, GNRHR, HESX1, HFE, HS6ST1, HSD17B3, IL17RD, INSL3, KISS1, KISS1R, KLHL10, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, M1AP, MAMLD1, MAP3K1, MKKS#, NANOS1, NPAS2, NR0B1, NR5A1, NSMF, PCSK1, PICK1, PLCZ1, PMFBP1, PNLDC1, POR, POU1F1, PPP2R3C, PROK2, PROKR2, PROP1, QRICH2, RSPO1, SEMA3A, SEMA3E, SEPTIN12, SLC26A8, SOHLH1, SOX10, SOX2, SOX3*, SOX9, SPATA16, SPEF2, SPRY4, SRA1, SRD5A2, SRY, STAR, SUN5, SYCE1, SYCP2#, SYCP3, TAC3, TACR3, TAF4B, TEX11, TEX14, TEX15, TRIM32, TTC21A, TTC29#F, TTC8, USP9Y#, WDR11, WNT4, WT1, WWOX, ZMYND15 *SOX3 testing does not include repeat expansion. #Some exons have less than optimal coverage. Separate AZF microdeletion testing is recommended as a complementary test. Read More Persistent Mullerian Duct Syndrome Type I, X-linked Congenital Bilateral Absence of Vas Deferens, Waardenburg Syndrome, Hypogonadotropic Hypogonadism with or without anosmia, Spermatogenic Failure, Wilms Tumor, Y-linked Spermatogenic Failure 2 46,XX sex reversal, Cryptorchidism, Androgen Insensitivity Read More
Test code About the Report Genes covered Top Conditions Covered
21229 Gastrointestinal conditions- Covering more than 330 genes ABCB11 ABCB4 ABCC2 ACTG1 ACVR2B ADAM17 AHI1 AKR1D1 ALPI AMER1* ANKS6 APC APOA5* APOC2* ARFGEF2 ARL13B ARL15 ARL6 ASXL3 ATM ATP8B1 AXIN2 B9D1 B9D2* BAAT* BBS1 BBS10 BBS12* BBS2 BBS4 BBS5 BBS7 BBS9 BDNF BHMT BMPR1A BRCA2 C5ORF42 CC2D2A CDH1 CDH18* CDK9 CDKN1C CDX1 CELSR3 CENPF CEP164 CEP290 CEP41 CFAP53 CFTR CHD7 CHEK2 CLCN4 CLDN1 CLMP CPA1 CRB2 CREB3L3 CTNNA1 CTNND2 CTRC CYP27A1 CYP7B1 DCDC2 DDX3X DGAT1 DGUOK DHCR7* DHODH DISP1 DLST DPF2 DST DYNC2H1 ECE1 EDN3 EDNRB EDRB EFNB1 EFNB2 EFTUD2 EPCAM ERCC4 EYA1 FAH FAN1 FANCA FANCB FANCC FANCD2 FANCG FBN1 FHOD3 FLNA FOCAD FOXA2 FOXF1 FOXP3 FRAS1 FREM1 FREM2 GABRB3 GALNT12 GANAB GATA4 GATA5 GATA6 GDNF GLI2 GLI3 GLIS2* GPIHBP1 GRB10 GREM1 GSC GUCY2C HIRA HNF1B HOXD13 HSD3B7 HSPD1 HSPG2 IFT140 IFT27 IL10 IL10RA IL10RB IL21 INPP5E INTU INVS IQCB1 IRF2BPL ITGA6 ITGB2 ITGB4 JAG1 KCNH1 KDM6A KIF1BP KIF7 KIT KMT2D KRT9 L1CAM LBR LCT LEFTY2 LHFPL5* LIPA LMF1 LONP1 LRP2 LRP5 MAP1B MAP3K15 MAPRE2 MECP2 MID1 MIR17HG* MITF MKKS* MKS1 MLH1 MLH3 MMP14 MNX1 MPDZ MPV17 MSH2 MSH6 MTHFR MUTYH MVK MYCN* MYH14 MYO5B MYOD1 MYRF NAA15 NCF2 NEB NEK8 NEUROG3* NF1 NHS NIPBL NKX2-5 NLGN1* NODAL NOG NOS1 NOTCH1 NOTCH2 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NR0B1 NR1H4 NR2F2 NRG1 NRTN NRXN1 NRXN3 NSD1 NTHL1 NUP188 OFD1 OGT PAX3 PBX1 PCSK5 PDGFRA PDX1 PEX1 PEX10 PEX12 PEX2* PEX26 PEX5 PEX6 PFKL PHOX2B PIGN PITX2 PKD1 PKD1L1 PKD2 PKHD1 PLAT PLEC PLPP6 PMS2 PODXL POGZ POLD1 POLE PPARGC1A PPP1R12A PRF1* PRKCSH PRSS1 PTEN PTF1A PTPN12 PTPN14 RAB43 RARB RET RFX6 RMRP ROBO4 RPGRIP1L SAR1B SCYL1 SDHA SDHB SDHC SDHD SEC63 SERPINA1 SETD5 SF3B4 SGCD SHH SHROOM4 SI SIN3A SKIV2L SLC10A2 SLC25A13 SLC26A3 SLC29A4 SLC5A1 SLC5A9 SLC9A3 SLCO1B1 SLCO1B3 SMAD4 SMPD1 SON SOX10* SOX2 SPINK1 SPINK5 SPINT2 STAG2 STIM1 STK11 STX3 TBC1D4 TBX1 TBX4 TBX5 TCF7L2 TCN2 TCTN1 TCTN2 TCTN3 TJP2 TLN1 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM70 TP53 TP63 TRIM32* TRMU TRPC6 TTC21B TTC28 TTC37 TTC7A TTC8 TUBGCP6 TXNL4A TXNRD2 UBR1 UGT1A1 VIPAS39 VPS33B WDR19 WDR35 WT1 XIAP ZEB2 ZFPM2 ZIC2 ZIC3 ZNF423 *Less than optimal coverage on the gene Read More Congenital Anomalies of the Gastrointestinal Tract, Colorectal Cancers, Gastric Cancers, Familial Gastrointestinal Stromal Tumors (GISTs), Pancreatitis, Gastrointestinal Atresia, Congenital Hepatic Fibrosis, Congenital Diarrhea, Cholestasis, Hirschsprung Disease, Polycystic Liver Disease Read More
Test code About the Report Genes covered Top Conditions Covered
21214 Gynaecological conditions - Covering more than 170 genes ABCC8 ADAMTS19 AIRE AKT2 ALMS1 AMH APPL1 AR ATM BARD1 BLK BLM BMP15 BMPR1B BRCA1 BRCA2# BRIP1 CAPN10 CDH1 CEL CHEK2 CISD2 CLPP CNOT1 CP CPEB1 CYP11a CYP17 CYP17A1 CYP19 CYP19A1 CYP21 DCAF17 DICER1# DNAJC3 DYRK1B EIF2AK3 EIF2B1 EIF2B2 EIF2B4 EIF2B5 EIF2S3 EPCAM F2 F5 FANCM FGFR1 FIGLA FOXL2 FOXP3 FSHR FTO GALT GATA4 GATA6 GCK GLIS3 GLUD1 GNAS1 GNRHR HADH HFM1 HNF1A HNF1B HNF4A IER3IP1 IGF-II IL2RA INS INSR ITCH KAL1 KCNJ11 KLF11 LH LMNA LRBA LRP5 MAFA MCM8 MCM9 MLH1 MRE11A MSH2 MSH6 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MTHFR 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 MUTYH NBN NEUROD1 NEUROG3 NF1 NKX2-2 NOBOX NR5A1 PALB2 PAX4 PAX6 PCBD1 PCO1 PDX1 PIK3R1 PLS3 PMS2 POLD1 POLG PPARG PPP1R15B PROKR2 PSMC3IP PTEN PTF1A PTHB1 RAD50 RAD51C RAD51D RECQL RFX6 SHBG SLC16A1 SLC19A2 SLC29A3 SLC2A2 SLC34A1 SLC9A3R1 SMARCA4# SOHLH1 SRD5A1 SRD5A2 STAG3 STAT1 STAT3 STK11 SYCE1 TP53 TRMT10A UCP2 WFS1 WNT1 WNT3A XRCC2 ZBTB20 ZFP57 ZMPSTE24 #Some exons have less than optimal coverage Read More Breast, Endometrial and other Gynaecological Cancers, Premature Ovarian Failure and Early Menopause, Polycystic Ovary Syndrome (PCOS), Hypothalamic Amenorrhea, Higher risk of pregnancy loss, Osteoporosis Read More
Test code About the Report Genes covered
21223 Custom genes - up to 50 genes Custom built exome report with up to 50 genes of preference
Test code About the Report Genes covered
21224 Custom genes - up to 100 genes Custom built exome report with up to 100 genes of preference
Test code About the Report Genes covered Top Conditions Covered
21208 Sudden Death - Covering more than 60 genes AKAP9, ANK2, CACNA1C, CACNB2, CALR3, CASQ2, CAV3, CSRP3, CTF1, DES, DSC2, DSG2, DSP, DTNA, EYA4, FBN1, FBN2, FKTN, GJA5, GPD1L, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, LAMP2, LDB3, LMNA, LRP6, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NPPA, PKP2, PLN, PRKAG2, PSEN1, PSEN2, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SLC25A4, SNTA1, TAZ, TCAP, TGFB3, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL Long QT Syndrome, Short QT Syndrome, Familial Atrial Fibrillation, Brugada Syndrome, Romano-Ward Syndrome, Familial Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Thoracic Aortic Aneurysm and Dissection, Hutchinson-Gilford Syndrome, Sudden Cardiac Death Syndrome, Tibial Muscular Dystrophy, Wolff-Parkinson-White Pattern, Marfan Syndrome Read More
Test code About the Report Genes covered Top Conditions Covered
21206 Primary Immunodeficiency- Covering more than 570 genes 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 Read More Combined Immunodeficiency, Dyskeratosis Congenita, Pulmonary Alveolar Proteinosis, WHIM Syndrome, Monogenic Congenital Diarrhea, Monogenic Autoinflammatory Syndromes, Monogenic Autoimmunity, Hyper IgM Syndrome, Major Histocompatibility Complex Class I and II Deficiencies, Chronic Mucocutaneous Candidiasis, Familial Cold Autoinflammatory Syndromes, Familial Mediterranean Fever, Congenital Neutropenia, Chronic Granulomatous Disease, Leukocyte Adhesion Deficiency, Agammaglobulinemia and Hypogammaglobulinemia, Monogenic Common Variable Immune Deficiency, Hermansky-Pudlak Syndrome, Herpes Simplex Encephalitis Read More
Test code About the Report Genes covered Top Conditions Covered
21201 Metabolic diseases - Covering more than 470 genes WABCC8 ABCD1 ABCD3 ABCD4 ACAD8 ACAD9 ACADL ACADM ACADS ACADSB ACADVL ACAT1 ACOX1 ACSF3 ACY1 ADA ADAMTSL2 ADAR ADK ADSL AGA AGK AGL AGPAT2 AGPS AGXT AHCY AKT2 ALAD ALAS2 ALDH5A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 AMACR AMN AMPD1 AMT ANO10 ANO5 ANTXR2 APRT APTX ARG1 ARSA ARSB ASAH1 ASL ASPA ASS1 ATIC ATP13A2 ATP6V0A2 ATP7B AUH B3GLCT B4GALT1 BCKDHA BCKDHB BCS1L BOLA3 BSCL2 BSND BTD C12ORF65 CA5A CACNA1S CASR CAV1 CAV3 CAVIN1 CBLIF CBS CD320 CIDEC CLCN1 CLCNKB CLDN16 CLDN19 CLN3 CLN5 CLN6 CLN8 CLPB CNNM2 CNNM4 COG1 COG4 COG5 COG6 COG7 COG8 COL11A2 COL2A1 COQ2 COQ4 COQ5 COQ6 COQ7 COQ8A COQ9 CPOX CPS1 CPT1A CPT2 CTH CTNS CTSC CTSD CTSK CUBN D2HGDH DBT DDOST DGUOK DHCR7 DHDDS DHODH DLD DNAJC12 DNM CTSA 1L DOLK DPAGT1 DPM1 DPM2 DPM3 DPYD DPYS DYM DYSF EBP ECHS1 EGF ENO3 EPM2A ETFA ETFB ETFDH FAH FAM111A FBP1 FBXL4 FECH FH FKRP FKTN FLAD1 FLNA FLNB FMO3 FOLR1 FOXRED1 FUCA1 FUT8 FXYD2 G6PC GAA GALC GALE GALK1 GALNS GALT GAMT GATM GBA GBE1 GCDH GCH1 GCK GCSH GFM1 GLA GLB1 GLDC GLRX5 GLUD1 GLUL GM2A GMPPA GNE GNMT GNPAT GNPTAB GNPTG GNS GPC3 GPHN GUSB GYG1 GYS1 GYS2 HADH HADHA HADHB HAMP HCFC1 HEXA HEXB HFE HGD HGSNAT HIBCH HJV HLCS HMBS HMGCL HMGCS2 HNF1A HNF1B HNF4A HPD HPRT1 HRAS HSD17B10 HSD17B4 HYAL1 IDH2 IDS IDUA IFIH1 INSR ISCU IVD KCNA1 KCNJ10 KCNJ11 KCNJ2 L2HGDH LAMA2 LAMP2 LCT LDB3 LDHA LIAS LIPA LIPE LIPT1 LMBRD1 LMNA LPIN1 MAGT1 MAN1B1 MAN2B1 MANBA MCCC1 MCCC2 MCEE MCOLN1 MFN2 MFSD8 MGAT2 MLYCD MMAA MMAB MMACHC MMADHC MMUT MOCOS MOCS1 MOCS2 MOGS MPDU1 MPI MPV17 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MTHFR MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTR MT-RNR1 MT-RNR2 MTRR 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 MYH3 MYOT NAGA NAGLU NAGS NBAS NDUFAF2 NDUFS1 NEU1 NFU1 NGLY1 NHLRC1 NIPA2 NPC1 NPC2 NT5C3A OAT OPA1 OPA3 OTC OXCT1 PAH PC PCBD1 PCCA PCCB PCK1 PDHA1 PDHB PDHX PDSS1 PDSS2 PDX1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKB PHKG2 PHYH PLIN1 PMM2 PNP PNPLA2 POLG POLG2 PPARG PPOX PPT1 PRKAG2 PRKAG3 PRODH PRPS1 PSAP PTF1A PTS PYGL PYGM QDPR RAI1 RBCK1 REN RFT1 RNASEH2A RNASEH2B RNASEH2C RRM2B RYR1 SAMHD1 SARS2 SCN4A SEC23B SERAC1 SERPINA1 SGSH SI SLC12A3 SLC16A1 SLC17A5 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC2A1 SLC2A2 SLC30A10 SLC35A1 SLC35A2 SLC35C1 SLC37A4 SLC39A4 SLC3A1 SLC40A1 SLC46A1 SLC5A1 SLC6A19 SLC6A8 SLC6A9 SLC7A7 SLC7A9 SMPD1 SPG7 SRD5A3 SSR4 STT3A STT3B SUCLA2 SUCLG1 SUGCT SUMF1 SUOX TALDO1 TANGO2 TAT TAZ TBC1D4 TCF4 TCN2 TFR2 TIMM8A TK2 TMEM126A TMEM165 TMEM70 TPMT TPP1 TREX1 TRIM37 TRPM6 TUSC3 TWNK TYMP UCP2 UMOD UMPS UPB1 UROD UROS WFS1 XDH ZMPSTE24 Read More Phenylketonuria, Gaucher Disease, Hurler Syndrome, Niemann-Pick Disease, Glucose-Galactose Malabsorption, Tay-Sachs Disease, Fabry Disease, Krabbe Disease, Galactosemia, Maple Syrup Urine Disease, Glycogen Storage Disease, Zellweger Syndrome, Adrenoleukodystrophy, Wilson Disease, Ornithine Transcarbamylase Deficiency, Hemochromatosis Read More
Test code About the Report Genes covered Top Conditions Covered
21215 Men's Health - Covering more than 180 genes ABCC8 AIRE AKT2 ALMS1 APAF1 APPL1 ATM BCL10 BLK BRCA1 BRCA2 CD79A CD79B CDH2 CDK4 CDKN2D CEL CHEK2 CISD2 CKAP4 CLP1 CLU CNOT1 COL4A3 COL4A4 COL4A5 CP CTAG1B CTCF CTCFL CTGF CYP19A1 CYP1A2 CYP1B1 CYP3A4 CYP3A5 DCAF17 DCC DICER1 DNAJC3 DNMT3B DROSHA DYRK1B EIF2AK3 EIF2B1 EIF2S3 EPCAM ETV6 F8 F9 FAS FGFR3 FOXL2 FOXP3 FSHR GATA4 GATA6 GCK GLIS3 GLUD1 GPER1 GSTT1 HADH HLA-B HLA-DQB1 HLA-DRB1 HNF1A HNF1B HNF4A HOXB13 HSD3B2 IER3IP1 IL2RA IMP3 INS INSR ITCH KCNJ11 KLF11 KNL1 LRBA MAFA MAGEA1 MAGEA3 MAGEA4 MAGEB2 MC2R MCC MCF2 MDM2 MIB1 MLH1 MSH2 MSH6 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 MUM1 MYD88 NBN NEUROD1 NEUROG3 NKX2-2 NR5A1 PATZ1 PAX4 PAX6 PCBD1 PCDH10 PDE11A PDGFRA PDX1 PIK3R1 PITX1 PMS2 POLD1 PPARG PPP1R13L PPP1R15B PTEN PTER PTF1A PTPRC RFX6 SCGB3A1 SIM1 SLC16A1 SLC19A2 SLC29A3 SLC2A2 SLC43A1 SLC5A5 SNRPN SNX29 SOX1 SOX17 SPRY4 SRY STAT1 STAT3 TERC TGCT1 TOP1 TP53 TRMT10A UCP2 WFS1 XIST ZBTB20 ZFP57 ZMPSTE24 Read More Testicular Cancer Prostate Cancer Erectile Dysfunction Hemophilia A Diabetes
Test code About the Report Genes covered Top Conditions Covered
21209 Comprehensive inherited kidney diseases - Covering more than 320 genes ACE, ACTN4, ADAMTS9, ADCK4, ADCY10, AGT, AGTR1, AGXT, AHI1, ALG1, ALMS1, ANKFY1, ANKS6, ANLN, ANOS1, 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, 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, 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, AP2S1, CLCNKA, CLCNKB, GNA11, WT1, XDH, XPNPEP3, XPO5, YRDC, ZMYM2, ZNF423 Read More Alport Syndrome, Nephrotic Syndrome, Nephronophthisis, Polycystic Kidney Disease, Autosomal Dominant Polycystic Kidney Disease, Nephropathic Cystinosis, Denys-Drash Syndrome, Glomerulopathy with fibronection deposits, Nail-Patella Syndrome, Pierson Syndrome Read More
Test code About the Report Genes covered Top Conditions Covered
21225 Neurological & Muscular disorders - Covering more than 550 genes AAAS AARS AARS2 ABCA1 ABCB7 ABCD1 ABHD12 ACAD9 ACADVL ACO2 ACTA1 ADCY6 AFG3L2 AGK AGTPBP1 AGXT AIFM1 ALAS2 AMACR ANO5 AP1S1 AP4B1 AP4E1 AP4S1 AP5Z1 APOA1 APOPT1 APTX ARHGEF10 ARSA ATL1 ATL3 ATM ATP1A1 ATP2A1 ATP5A1 ATP5E ATP7A ATP7B ATPAF2 AUH B2M B3GALNT2 B4GALNT1 B4GAT1 BAG3 BCKDHB BCS1L BICD2 BIN1 BOLA3 BSCL2 C12ORF65 C19orf12 CAPN3 CARS2 CASQ1 CAV3 CCT5 CD59 CFL2 CHCHD10 CHKB CLCF1 CLPB CNTN1 CNTNAP1 COA5 COA6 COA7 COASY COL12A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3 COQ2 COQ4 COQ6 COQ7 COQ8A COQ8B COQ9 COX10 COX14 COX15 COX20 COX6A1 COX6B1 COX8A CPOX CRLF1 CRYAB CTDP1 CTSA CYC1 CYP27A1 CYP2U1 CYP7B1 DAG1DES DARS2 DCAF8 DCTN1 DDHD1 DDHD2 DEGS1 DGUOK GUOK 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 FAM126A FAM134B FARS2 FASTKD2 FBLN5 FBXL4 FBXO38 FDX1L FDX2 FGD4 FGF14 FH FHL1 FIG4 FKRP FKTN FLAD1 FLNC FLVCR1 FMR1 FOXRED1 FXN GAA GALC GAN GARS 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 IARS2 IARSA2 IBA57 IGHMBP2 IKBKAP INF2 INPP5K ISCA2 ISCU ISPD ITGA7 KARS KBTBD13 KCNA2 KIAA0196 KIF1A KIF1B KIF5A KLHL40 KLHL41 L1CAM LAMA2 LAMP2 LARGE1 LARS LARS2 LDB3 LIAS LIMS2 LIPT1 LITAF LMNA LMA LMOD3 LRPPRC LRSAM1 LYRM4 LYRM7 LYST MAF MAP3K20 MARS 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 MTFMT MTM1 MTMR2 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTO1 MTPAP 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 MTTP MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY 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 NTR 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 QARS RAB7A RARS 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/HSN2 XK XPA XPC XRCC1 YARS1 YARS2 ZFYVE26 ZFYVE27 ACAD9 Read More Duchenne Muscular Dystrophy, Beckers Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disorder, Facioscapulohumeral Dystrophy, Myotonic Dystrophy, Emery-Dreifuss Dystrophy, Congenital Dystrophies, Congenital Myopathies, Arthrogryposis Multiplex Congenita, Mitochondrial Myopathies, Hereditary Spastic Paraplegia, Amyotrophic Lateral Sclerosis, Myasthenia Gravis Charcot-Marie-Tooth Disease (CMT), Hereditary Motor Neuropathy, Hereditary Sensory and Autonomic Neuropathy, Andermann Syndrome, Small Fiber Neuropathy, Riboflavin Transporter Deficiency Neuronopathy, Hereditary Transthyretin-Mediated Amyloidosis, Spinal Muscular Atrophy (SMA), Cowchock Syndrome, Familial Dysautonomia, Giant Axonal Neuropathy, Spinocerebellar Ataxia, Neurofibromatosis, Tourette's Syndrome, Wilsons’s Disease Read More
Test code About the Report Genes covered Top Conditions Covered
21226 Ophthalmological disorders - Covering more than 680 genes 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 C12ORF65 C1QTNF5 C21orf2 C2CD3 C2ORF71 C5ORF42 C8ORF37 CA4 CABP4 CACNA1F CACNA2D4 CANT1 CAPN5 CBS CC2D2A CCDC28B CDH23 CDH3 CDHR1 CEP104 CEP120 CEP164 CEP290 CEP41 CERKL 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 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 FAM126A FAM161A FBN1 FDXR FLVCR1 FNBP4 FOXC1 FOXE3 FOXL2 FRAS1 FREM1 FREM2 FRMD7 FSCN2 FTL FYCO1 FZD4 FZD5 GALE GALK1 GALT GBA GCNT2 GDF3 GDF6 GFER GJA1 GJA3 GJA8 GNAT1 GNAT2 GNB3 GNPTG GPR143 GPR179 GRIP1 GRK1 GRM6 GRN GSN GUCA1A GUCA1B GUCY2D HARS HARS1 HCCS HCS HESX1 HEXA HGSNAT HK1 HKDC1 HMCN1 HMGB3 HMX1 HOXA1 HOXB1 HPS1 HPS3 HPS4 HPS5 HPS6 HSF4 HTRA2 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 KLHL7 KMT2D KRT12 KRT3 KS1 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 MTRFR 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 MTTP MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY MVK MYC MYH9 MYO5A MYO7A MYOC NAA10 NDP NEK2 NEUROD1 NF2 NHS NMNAT1 NOTCH2 NP 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 PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDEA PDZD7 PE1 PEX PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGK1 PH2 PHF6 PHOX2A PHYH PIGL PIK3R5 PIKFYVE PITPNM3 PITX2 PITX3 PLA2G5 PLK1S1 PLK4 PMM2 PNKP PNPLA6 POC1B POLG POLG2 POLR1C POLR1D POMC POMGNT1 PORCN PPARG PPT1 PQBP1 PRCD PRDM5 PRH2 PRKCG PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRSS56 PTCH1 PTX2 PX2 PX3 PXDN RAB18 RAB27A RAB28 RAB3GAP1 RAB3GAP2 RARB RAX RAX2 RB1 RBP3 RBP4 RD3 RDH11 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RL RLBP1 ROBO3 ROM1 RP1 RP10 RP11 RP12 RP13 RP14 RP17 RP18 RP19 RP1L1 RP2 RP20 RP26 RP27 RP28 RP30 RP31 RP33 RP35 RP36 RP38 RP39 RP4 RP40 RP42 RP44 RP45 RP46 RP47 RP48 RP49 RP50 RP53 RP54 RP55 RP56 RP57 RP58 RP59 RP60 RP61 RP62 RP63 RP65 RP67 RP69 RP7 RP70 RP71 RP72 RP73 RP74 RP75 RP76 RP77 RP78 RP79 RP80 RP81 RP83 RP84 RP85 RP86 RP88 RP89 RP9 RP90 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 TIP3 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 ZNF513 Read More Microphthalmia, Anophthalmia and Coloboma, Complex Strabismus, Cataract and Lens Associated Disease, Retinal Dystrophies, Optic Atrophy, Albinism, Anterior Segment Dysgenesis Including Glaucoma, Retinitis Pigmentosa, Congenital Stationary Night Blindness, Achromatopsia, Read More
Test code About the Report Genes covered Top Conditions Covered
21203 Cancer predisposition - Covering more than 173 genes AIP 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 HOXB13 HRAS IKZF1 KIF1B KIT KITLG KRAS LZTR1 MAP2K1 MAP2K2 MAX MEN1 MET MITF MLH1 MLH3 MRE11A MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NRAS NSD1 NSUN2 NTHL1 PALB2 PAX5 PDGFRA PHOX2B PMS1 PMS2 POLD1 POLE POLH POT1 PPM1D PRF1 PRKAR1A PTCH1 PTEN PTPN11 RAD50 RAD51C RAD51D RAF1 RASA2 RB1 RECQL RECQL4 REST RET RHBDF2 RIT1 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 TINF2 TMEM127 TP53 TRIP13 TSC1 TSC2 VHL WRN WT1 XPA XPC XRCC2 RNASEL, ABRAXAS1, ACVRL1, AKT1,ETV6, MC1R, PIK3CA, RNF43,STK11, SUFU, TGFBR2, XRCC3, HNF1B Read More Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Adenomatous Polyposis, Gardner Syndrome, Muir-Torre Syndrome, MYH-Associated Polyposis (MAP), Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome, Hereditary Diffuse Gastric Cancer Syndrome, Li-Fraumeni Syndrome, Cowden (PTEN) Hamartomas Syndrome, Von Hippel Lindau, Multiple Endocrine Neoplasia, Hereditary Pheochromocytoma and Paraganglioma Syndrome, Turcot Syndrome, Hereditary Non-Polyposis Colorectal Cancer and Prostate Cancer Read More
Test code About the Report Genes covered Top Conditions Covered
21210 Psychiatric diseases- Covering more than 200 genes ABCB4, ABCD1, ADSL, ALAD, ALDH5A1, AMACR, AMT, ANK3, AP1S1, ARG1, ARSA, ARX, ASL, ASS1, ATP13A2, ATP1A3, ATP2A2, ATP7B, B4GALNT1, BCKDHA, BCKDHB, BCKDK, C19orf12, CA5A, CACNA1A, CBS, CHCHD10, CLCN2, CLCN4, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLPX, CNTNAP2, COASY, COL4A1, CP, CPOX, CPS1, CSTB, CTSD, CYP27A1, DARS, DBH, DBT, DCAF17, DDC, DEPDC5, DLD, DNAJC12, DNAJC6, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, FA2H, FAH, FECH, FIG4, FOLR1, FUCA1, GALC, GAMT, GATM, GCH1, GFAP, GLA, GLB1, GLDC, GM2A, GNS, GRIA3, GSS, HARS, HEXA, HEXB, HGSNAT, HMBS, HMGCL, HPRT1, HTRA1, IQSEC2, KCNT1, KCTD17, MAN2B1, MANBA, MAOA, MECP2, MED12, MFSD8, MMACHC, MMADHC, MSTO1, MTHFR, MTR, MUT, NAGLU, NAGS, NDP, NHLRC1, NPC1, NPC2, OTC, PAH, PAK3, PANK2, PCBD1, PCCA, PCCB, PCDH19, PLA2G6, PLP1, POLG, PPOX, PPT1, PRDX1, PRKAR1A, PRODH, PSAP, PTS, QDPR, REPS1, RPS6KA3, SETX, SGCE, SGSH, SLC12A6, SLC20A2, SLC25A13, SLC25A15, SLC30A10, SLC39A14, SLC52A1, SLC52A2, SLC52A3, SLC6A19, SLC6A3, SLC6A8, SLC7A7, SPART, SPG11, SPR, SUMF1, TBC1D7, TBX1, TH, TIMM8A, TOR1A, TREX1, TRRAP, TTC19, TWNK, TYMP, TYROBP, UBQLN2, UROD, UROS, VPS13A, WDR45, WFS1, YWHAG, ZFYVE26, APP, CHCHD2, CHMP2B, CSF1R, CTSF, DCTN1, DNAJC5, DNMT1, FBXO7, FTL, GRN, ITM2B, ITPR1, KIAA1161, LMNB1, LRRK2, MAPT, MATR3, NOTCH3, OPTN, PARK7, PDGFB, PFN1, PINK1, PRKN, PRNP, PSEN1, PSEN2, SNCA, SOD1, SQSTM1, TARDBP, TBK1, TREM2, TTR, VAPB, VCP, VPS35, XK, XPR1 Read More X-linked adrenoleukodystrophy, Early-Onset Autosomal Dominant Alzheimer Disease, Alzheimer Disease, Amyotrophic Lateral Sclerosis 1, Frontotemporal Dementia, Motor Neuron Disease, Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2, Basal Ganglia Calcification, Cerebrotendinous Xanthomatosis, Lujan-Fryns Syndrome Read More
Test code About the Report Genes covered
Custom Population specific human exome sequencing Custom genes
Available for many populations & can be customized to your own population of preference