More than 300 metabolic disorders are currently known to have genetic origins. These disorders often result from the body either failing to produce a necessary enzyme or creating one that malfunctions, leading to the accumulation of toxic substances or the absence of critical products required for normal metabolism. This can affect various bodily functions, causing a broad range of symptoms. Although the effects vary, common symptoms of many metabolic disorders include poor feeding or irregular appetite, lethargy, jaundice, digestive issues, abnormal weight regulation, seizures, developmental delays, and abdominal pain. Additionally, there are subtle warning signs, such as high blood pressure, high cholesterol, and elevated triglycerides, which may go unnoticed.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:795 AARS2, AASS, ABCA1, ABCB11, ABCB4, ABCB7, ABCC8, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAA1, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACY1, ADA, ADAMTSL2, ADAR, ADK, ADSL, AFG3L2, AGA, AGK, AGL, AGPAT2, AGPS, AHCY, AIFM1, AKR1D1, AKT2, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMPD1, AMT, ANO10, ANO5, ANTXR2, AP1S1, AP4M1, APOA1, APOA5, APOB, APOC2, APOE, APOPT1, APTX, ARG1, ARSA, ARSB, ASAH1, ASL, ASNS, ASPA, ASS1, ATAD1, ATAD3A, ATIC, ATP13A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MC3, ATP5PO, ATP6AP1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BAAT, BCAT2, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BSCL2, BSND, BTD, C12orf65, C19orf12, C19orf70, C1QBP, CA2, CA5A, CACNA1S, CAD, CARS2, CASR, CAT, CAV1, CAV3, CAVIN1, CBS, CCDC115, CD320, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CIDEC, CISD2, CKMT1A, CKMT1B, CKMT2, CLCN1, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM1, CNNM2, CNNM4, COA6, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT1B, CPT2, CRAT, CRLS1, CSGALNACT1, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CYC1, CYP27A1, CYP7B1, D2HGDH, DARS, DARS2, DBH, DBT, DCXR, DDC, DDOST, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DLAT, DLD, DMPK, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYSF, EARS2, EBP, ECHS1, EGF, ELAC2, ENO3, EOGT, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAH, FAM111A, FARS2, FASTKD2, FBP1, FBXL4, FDX2, FDXR, FECH, FH, FKRP, FKTN, FLAD1, FLNA, FLNB, FMO3, FOLR1, FOXRED1, FTCD, FTL, FUCA1, FUT8, FXN, FXYD2, G6PC, G6PC3, GAA, GABRG2, GAD1, GALC, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAMT, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCLC, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GIF, GK, GLA, GLB1, GLDC, GLRA1, GLRB, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOT2, GPC3, GPD1, GPHN, GRHPR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HOGA1, HPD, HPRT1, HPS1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INSR, ISCA1, ISCA2, ISCU, ISPD, ITPA, IVD, KCNA1, KCNJ10, KCNJ11, KCNJ2, KCTD7, KIF1A, KYNU, L2HGDH, LAMA2, LAMP2, LARGE1, LARS, LARS2, LCAT, LCT, LDB3, LDHA, LDLR, LDLRAP1, LETM1, LIAS, LIPA, LIPE, LIPT1, LIPT2, LMBRD1, LMNA, LONP1, LPIN1, LPL, LRPPRC, LYRM4, LYRM7, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMGT1, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MSMO1, MSTO1, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRR, MTTP, MUT, MVK, MYOT, NADK2, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NFS1, NFU1, NGLY1, NHLRC1, NIPA2, NNT, NPC1, NPC2, NSDHL, NSUN3, NT5C3A, NUBPL, OAT, OCRL, OGDH, OPA1, OPA3, OTC, OXCT1, PAH, PANK2, PARS2, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PCSK9, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHYH, PIGA, PIGL, PIGN, PIGO, PIGS, PIGT, PIGV, PINK1, PLA2G6, PLIN1, PLPBP, PMM2, PMPCA, PMPCB, PNP, PNPLA2, PNPLA8, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPA2, PPARG, PPM1K, PPOX, PPT1, PRDX1, PRKAG2, PRKAG3, PRODH, PRPS1, PSAP, PSAT1, PSPH, PTF1A, PTS, PUS1, PYGL, PYGM, PYY, QDPR, QRSL1, RAI1, RARS2, RBCK1, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RPIA, RPL10, RPN2, RRM2B, RTN4IP1, RXYLT1, RYR1, SACS, SAMHD1, SAR1B, SARS2, SC5D, SCN4A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SERPINA1, SETX, SFXN4, SGSH, SHMT2, SI, SKIV2L, SLC12A3, SLC13A5, SLC16A1, SLC17A5, SLC18A2, SLC19A1, SLC19A2, SLC19A3, SLC1A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC41A2, SLC41A3, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC5A6, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMPD1, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSBP1, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAT, TAZ, TBC1D4, TCF4, TCN1, TCN2, TFAM, TFR2, TH, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM165, TMEM199, TMEM70, TOP3A, TPI1, TPK1, TPMT, TPP1, TREX1, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TRPM7, TSFM, TTC19, TTC37, TTPA, TUFM, TUSC3, TWNK, TYMP, UCP2, UGT1A1, UMPS, UPB1, UQCC2, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROD, UROS, VARS2, VIPAS39, VKORC1, VPS33B, WARS2, WDR45, WFS1, XDH, XYLT2, YARS2, ZMPSTE24

Our diabetes and obesity panel are recommended for patients with abnormalities in glucose metabolism, such as hyper insulinemic hypoglycemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Prader-Willi syndrome can be detected with our diabetes and obesity panel, however, other disorders caused by imprinting errors or uniparental disomy such as 6q24-related transient neonatal diabetes mellitus and Beckwith-Wiedemann syndrome are not included in this panel.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:625 ABCA1, ABCC8, ABCG5, ABCG8, ACAT1, ACSF3, ADCY3, AFF4, AGL, AGRP, AIP, AIRE, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, APPL1, AQP2, ARL13B, ARL6, ARMC5, ATP6V0A2, AVP, AVPR2, B4GALT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BLK, CANT1, CC2D2A, CCDC28B, CEL, CEP164, CEP19, CEP290, CETP, CFAP418, CHD2, CISD2, CNOT1, COG1, COG4, COG5, COG6, COG7, COG8, CP, CPE, CREBBP, CUL4B, CYP27A1, DCAF17, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EHMT1, EIF2AK3, EIF2B1, EIF2S3, ENO3, ENPP1, EPM2A, FBP1, FOXP3, G6PC1, GAA, GATA6, GBE1, GCK, GCKR, GH1, GHR, GHRHR, GHRL, GLI3, GLIS3, GLUD1, GMPPA, GNAS, GNE, GPC3, GPD1, GPIHBP1, GYS1, GYS2, H6PD, HADH, HEXA, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HSD11B1, IER3IP1, IFT172, IFT27, IGF1R, INPP5E, INS, INSR, ITCH, KCNJ11, KIDINS220, KIF7, KLF11, KMT2C, KSR2, LAMP2, LARGE1, LAS1L, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LMF1, LMNA, LPL, LZTFL1, MAGEL2, MAN1B1, MC3R, MC4R, MCHR1, MEGF8, MGAT2, MKKS, MKRN3, MKS1, MOGS, MPDU1, MPI, MPV17, MRAP2, MTNR1B, MTTP, MYO5A, MYO7A, MYT1L, NDN, NEUROD1, NEUROG3, NGLY1, NHLRC1, NKX2-2, NPHP1, NPHP3, NR0B2, NSD1, NTRK2, OFD1, OXCT1, PAX4, PAX6, PC, PCBD1, PCK1, PCNT, PCSK1, PCSK9, PDE11A, PDE4D, PDX1, PFKM, PGAM2, PGK1, PGM1, PHF6, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PMM2, PNPLA6, POLD1, POMC, PPARG, PPP1R15B, PRKAG2, PRKAR1A, PRMT7, PROM1, PRPH2, PTEN, PTF1A, PYGL, PYGM, RAB23, RAI1, RBCK1, RDH5, RFT1, RFX6, RHO, RLBP1, RPGRIP1L, RPS6KA3, SDCCAG8, SETD2, SH2B1, SIM1, SLC16A1, SLC19A2, SLC29A3, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SNRPN, SPG11, SRD5A3, SSR4, STAT1, STAT3, TBX3, THOC2, THRA, TMEM165, TMEM67, TRAF3IP1, TRAPPC9, TRIM32, TRMT10A, TTC21B, TTC8, TUSC3, UCP2, UCP3, VPS13B, WFS1, XRCC4, XYLT1, ZBTB20, ZFP57, ZMPSTE24, ZNF711

The Oncomine Focus Assay is a targeted, multi-biomarker assay that enables detection of hotspots, SNVs, indels, CNVs, and gene fusions from DNA and RNA in a single workflow. This comprehensive assay design is further enhanced with workflow automation, delivering insights quickly and helping accelerate your research towards that next companion diagnostic or therapy in the future.

4-5 weeks

NGS

FFPE fine needle aspirates and core needle biopsies

No. of genes:52 AKT1, ALK, AR, AX, BRAF, CCND1, CDK4, CDK6, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ERG, ESR1, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, FGFR4, GNA11, GNAQ, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, MYC, MYCN, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, PPARG, RAF1, RET, ROS1, SMO

Ophthalmology panel is carefully designed to find the genetic basis of eye diseases, including those that are the leading causes of blindness among infants (Leber congenital amaurosis), children (early-onset retinitis pigmentosa), and adults (pattern dystrophy). Our panel includes the most common ophthalmology diseases, such as congenital glaucoma, retinitis pigmentosa, Stargardt disease, Stickler syndrome, achromatopsia, and Usher syndrome, among others. It also screens for different types of albinism (oculocutaneous and ocular) as well as Hermasky-Pudlak syndrome.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:450 ABCA4, ABCB6, ABHD12, ACO2, ACVR1, ADAM9, ADAMTS18, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AGK, AHI1, AIPL1, ALDH18A1, ALDH1A3, AP3B1, APTX, ARHGEF18, ARL13B, ARL2BP, ARL6, ARSG, ASB10, ATF6, ATOH7, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C1QTNF5, C2CD3, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP290, CEP41, CERKL, CFAP418, CHD7, CHM, CHMP4B, CIB2, CISD2, CLCN7, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COX7B, CPLANE1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNA1, CTNNB1, CTSD, CWC27, CYP1B1, CYP27A1, CYP4V2, DGUOK, DHDDS, DHX38, DKC1, DNA2, DNAJC19, DNM1L, DRAM2, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, ENPP1, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, EYS, FAM126A, FAM161A, FDXR, FLVCR1, FOXC1, FOXL2, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GBA, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GNAT2, GNPTG, GPR143, GRIP1, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HESX1, HEXA, HGSNAT, HK1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA2, IDH3B, IFT140, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KATNIP, KCNJ13, KCNV2, KIAA0586, KIF11, KIF7, KIT, KLHL7, LCA5, LEMD2, LEP, LEPR, LIM2, LMX1B, LOXL1, LRAT, LRMDA, LRP2, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MECR, MERTK, MFN2, MFRP, MFSD8, MIP, 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, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR0B2, NR2F1, NRL, NTF4, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPTN, OSTM1, OTX2, P3H2, PAX2, PAX3, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PHF6, PHYH, PIK3R5, PITPNM3, PITX2, PITX3, PLA2G5, PNKP, PNPLA6, POC1B, POLG, POLG2, POMC, POMGNT1, PPARG, PPT1, PQBP1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SBF2, SDCCAG8, SEMA4A, SERAC1, SETX, SHH, SIL1, SIX3, SIX6, SLC16A12, SLC24A5, SLC25A4, SLC25A46, SLC33A1, SLC38A8, SLC45A2, SLC52A2, SLC7A14, SLC9A6, SMCHD1, SMOC1, SNAI2, SNRNP200, SNX10, SOX10, SOX2, SPATA7, SPG7, STRA6, TBC1D20, TBK1, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TEK, TENM3, TFAP2A, TIMM50, TIMM8A, TIMP3, TK2, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TNFRSF11A, TNFSF11, TOPORS, TPP1, TRAF3IP1, TRIM32, TRNT1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TULP1, TWNK, TYMP, TYR, TYRP1, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX2, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, ZIC2, ZNF408, ZNF423, ZNF513

Approximately 10 % of the population worldwide is affected by chronic kidney diseases. Advances in genetic techniques are providing insights into kidney disease diagnosis, pathogenesis, and therapy. Comprehensive Renal Panel offers a comprehensive tool to screen for the most prevalent hereditary kidney disorders, including: Alport syndrome, renal tubular acidosis panel, focal glomerulonephritis panel, and primary hyperoxaluria, among others. Comprehensive Renal Panel also covers the group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet-Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:504 ABCB11, ABCB4, ABCC2, ACE, ACP5, ACTG2, ACTN4, ACVR2B, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, AKR1D1, ALDOB, ALG8, ALG9, ALPL, AMER1, ANKH, ANKS6, ANLN, ANO5, ANOS1, AP2S1, ARHGAP31, ARHGDIA, ARL13B, ARL3, ARL6, ARMC5, ARMC9, ARSL, ATP6V0A4, ATP6V1B1, ATP8B1, ATR, AVPR2, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP1, BMP4, BMPR1B, BNC2, BSND, C2CD3, CA2, CABP4, CANT1, CASP10, CASR, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCN6, CCNO, CD2AP, CDKN1C, CENPF, CENPJ, CEP120, CEP152, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP418, CFAP53, CFTR, CHD1L, CHD7, CHRNA3, CHST3, CHSY1, CILK1, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, COL10A1, COL4A1, COL4A3, COL4A4, COL4A5, COL9A3, COMP, COQ2, COQ6, COQ8B, COQ9, CPLANE1, CRB1, CRB2, CRELD1, CRTAP, CRX, CSPP1, CTNS, CTU2, CUBN, CUL3, CWC27, CYP7B1, DCDC2, DDR2, DDX59, DGKE, DGUOK, DHCR7, DICER1, DLL3, DMP1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB11, DNAL1, DRC1, DSTYK, DUSP6, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DZIP1L, EBP, EIF2AK3, EMP2, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, EYA1, FAH, FAM20C, FAN1, FAS, FASLG, FAT4, FEZF1, FGF17, FGF23, FGF8, FGFR1, FGFR2, FKBP10, FLNB, FLRT3, FN1, FOXP1, FRAS1, FREM1, FREM2, FSHB, FXYD2, GANAB, GATA3, GDF1, GDF5, GFM1, GHR, GLA, GLI2, GLI3, GLIS2, GLIS3, GNA11, GNAS, GNPAT, GNRH1, GNRHR, GPC3, GPC6, GREB1L, GRIP1, GUCY2D, HAAO, HAMP, HESX1, HEXA, HFE, HNF1B, HNF4A, HOXA13, HOXD13, HPSE2, HS6ST1, HSD11B2, HSD3B7, HSPG2, HYDIN, HYLS1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IFT81, IHH, IL17RD, IMPDH1, INF2, INPP5E, INPPL1, INVS, IQCB1, ITGA3, ITGA8, JAG1, KANK2, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KDM6A, KIAA0586, KIF14, KIF22, KIF7, KISS1, KISS1R, KLHL3, KMT2D, KYNU, LAGE3, LAMB2, LBR, LCA5, LCAT, LCT, LEP, LEPR, LHB, LHX3, LHX4, LIFR, LMF1, LMX1B, LRAT, LRIG2, LRP4, LRP5, LZTFL1, MAFB, MAGI2, MAPKBP1, MATN3, MCEE, MERTK, MESP2, MGP, MKKS, MKS1, MMAA, MMAB, MMADHC, MMP13, MMP21, MMP9, MMUT, MPV17, MUC1, MYH9, MYO1E, MYO5B, MYO7A, MYOCD, NADSYN1, NBAS, NEK1, NEK8, NEUROG3, NIPBL, NKX2-5, NKX3-2, NME8, NMNAT1, NODAL, NOG, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR0B2, NR1H4, NR3C2, NSDHL, NSMF, NUP107, NUP93, OBSL1, OCRL, ODAD1, ODAD2, ODAD3, OFD1, OSGEP, OTX2, P3H1, PAPSS2, PAX2, PBX1, PCSK1, PDE4D, PDE6D, PDSS2, PEX1, PEX10, PEX12, PEX2, PEX26, PEX5, PEX6, PEX7, PHEX, PHF6, PIBF1, PKD1, PKD1L1, PKD2, PKHD1, PLCE1, PLOD2, PMM2, PNPLA6, POLG, POLR3B, POMC, POU1F1, PPARG, PPIB, PRKAR1A, PRKCSH, PROK2, PROKR2, PROM1, PROP1, PRPH2, PTH1R, PTHLH, PTPRO, RBBP8, RD3, RDH12, RDH5, REN, RET, RHO, RLBP1, RMND1, RNF216, ROBO1, ROBO2, ROR2, RPE65, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH4A, RSPH9, RUNX2, SALL1, SALL4, SBDS, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SEMA3A, SERPINA1, SERPINF1, SERPINH1, SGPL1, SH3PXD2B, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC25A13, SLC25A15, SLC26A2, SLC26A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC4A1, SLC4A4, SLCO1B1, SLCO1B3, SLIT2, SMARCAL1, SMPD1, SOX10, SOX11, SOX17, SOX2, SOX3, SOX9, SPAG1, SPATA7, SPINT2, SPRY4, STRA6, SUFU, TAC3, TACR3, TBC1D1, TBX15, TBX18, TBX3, TBX5, TCTN1, TCTN2, TCTN3, TFR2, TJP2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNFRSF11B, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRIM32, TRIP11, TRMU, TRPC6, TRPS1, TRPV4, TSC1, TSC2, TTC21B, TTC37, TTC8, TULP1, TXNDC15, UGT1A1, UMOD, UPK3A, VHL, VIPAS39, VPS33B, WDR11, WDR19, WDR35, WDR4, WDR73, WNK1, WNK4, WNT4, WNT5A, WNT7A, WT1, XPNPEP3, XYLT1, ZIC3, ZMYND10, ZNF423