Leber Congenital Amaurosis 1; Lca1

Description

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). Genetic Heterogeneity of Leber Congenital AmaurosisLCA2 (OMIM ) is caused by mutation in the RPE65 gene (RPE65 ) on chromosome 1p31. LCA3 (OMIM ) is caused by mutation in the SPATA7 gene (OMIM ) on chromosome 14q31.3. LCA4 (OMIM ) is caused by mutation in the AIPL1 gene (OMIM ) on chromosome 17p13.1. LCA5 (OMIM ) is caused by mutation in the LCA5 gene (OMIM ) on chromosome 6q14.1. LCA6 (OMIM ) is caused by mutation in the RPGRIP1 gene (OMIM ) on chromosome 14q11. LCA7 (OMIM ) is caused by mutation in the CRX gene (OMIM ) on chromosome 19q13.3. LCA8 (OMIM ) is caused by mutation in the CRB1 gene (OMIM ) on chromosome 1q31-q32. LCA9 (OMIM ) is a locus that has been mapped to chromosome 1p36. LCA10 (OMIM ) is caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q21 and may account for as many as 21% of cases of LCA. LCA11 (OMIM ) is caused by mutation in the IMPDH1 gene (OMIM ) on chromosome 7q31.3-q32. LCA12 (OMIM ) is caused by mutation in the RD3 gene (OMIM ) on chromosome 1q32.3. LCA13 (OMIM ) is caused by mutation in the RDH12 gene (OMIM ) on chromosome 14q24.1. LCA14 (OMIM ) is caused by mutation in the LRAT gene (OMIM ) on chromosome 4q31. LCA15 (OMIM ) is caused by mutation in the TULP1 gene (OMIM ) on chromosome 6p21.3. LCA16 (OMIM ) is caused by mutation in the KCNJ13 gene (OMIM ) on chromosome 2q37. LCA17 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22. LCA18 (see {608133}) is caused by mutation in the PRPH2 gene (OMIM ) on chromosome 6p21.Perrault et al. (1999) provided a review of Leber congenital amaurosis, with emphasis on genetic heterogeneity.Wiszniewski et al. (2011) analyzed 13 known LCA genes in 60 LCA probands, and identified homozygous or compound heterozygous mutations in 42 (70%). In addition, a third disease-associated mutant allele at a second locus was identified in 7 (12%) of the 60 patients. Wiszniewski et al. (2011) stated that the significance of the third mutated allele was unknown, but suggested that mutational load might be important to penetrance of the LCA phenotype.Because LCA manifests very early in life and results in profound vision loss, patients with mutations in other syndromic or nonsyndromic eye disease genes may receive an initial diagnosis of LCA, prior to development of syndromic features or before more thorough phenotyping can be performed (see, e.g., Senior-Loken syndrome-5, {609254}).

Genes related to Leber Congenital Amaurosis 1; Lca1

CEP290
GUCY2D
GDF6
LRAT
IMPDH1
NMNAT1
LCA5
CRX
KCNJ13
RPE65
RPGRIP1
CRB1
IQCB1
RDH12
PCYT1A
RD3
SPATA7
AIPL1
TULP1
IFT140

Clinical Features

Top most frequent phenotypes and symptoms related to Leber Congenital Amaurosis 1; Lca1

Intellectual disability
Seizures
Global developmental delay
Hearing impairment
Hypertelorism
Growth delay
Nystagmus
Sensorineural hearing impairment
Muscular hypotonia
Cataract

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Incidence and onset information

— Based on the latest data available Leber Congenital Amaurosis 1; Lca1 have a estimated birth prevalence of 2.5 per 100k in Europe.

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Leber Congenital Amaurosis 1; Lca1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1 Specificity 3 % Genes 80 %
CEP290 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. CEP290 Specificity 100 % Genes 5 %
CEP290 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CEP290 Specificity 100 % Genes 5 %
CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CEP290 Specificity 100 % Genes 5 %
CEP290 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. CEP290 Specificity 100 % Genes 5 %
Leber Congential Amaurosis Panel (MitomeNGS). By Baylor Miraca Genetics Laboratories in United States. NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1 Specificity 90 % Genes 85 %
Joubert Syndrome Evaluation. By Athena Diagnostics Inc in United States. AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A Specificity 17 % Genes 5 %
CEP290 DNA Sequencing Test. By Athena Diagnostics Inc in United States. CEP290 Specificity 100 % Genes 5 %
Leber Congenital Amaurosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290 , (...) View the complete list with 4 more genes Panel GTR000558967 complete gene list IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1 Specificity 80 % Genes 95 %
Retinitis Pigmentosa Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3 , (...) View the complete list with 72 more genes Panel GTR000556332 complete gene list ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, IFT140, MVK, OFD1, POMGNT1, ROM1, PRPF3, NR2E3, MAK, RP9, CLN3, BBS2, BBS1, CYP4V2, HK1, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, ABCA4, RP1, CHM, PRKCG, SPATA7, NEUROD1, BEST1, AIPL1, ZNF513, ABHD12 Specificity 17 % Genes 75 %
Bardet-Biedl Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, C8orf37, TRIM32, TTC8, CEP290 , (...) View the complete list with 6 more genes Panel GTR000558812 complete gene list SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, C8orf37, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, KCNJ13, TMEM67, INPP5E Specificity 8 % Genes 10 %
Joubert syndrome, Bardet-Biedl, Senior Loken, LCA - CEP290 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. CEP290 Specificity 100 % Genes 5 %
Ciliopathies. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...) View the complete list with 73 more genes Panel GTR000552165 complete gene list EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, NODAL, WDR35, OFD1, PKD2, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, VHL Specificity 17 % Genes 75 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 86 more genes Panel GTR000552175 complete gene list DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, RAB3GAP2, GLI3, EZH2, NFIX, ATR, PCNT, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, UPF3B, LAMC3, MED12, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, PHF6, ATRX, OFD1, KIF1BP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, ASPM, MCPH1, LARGE1, POMT1, POMT2, VRK1, L1CAM, FGF8, FKRP, AHI1, TMEM216, POMGNT1, FKTN, PTCH1, NSD1, NIPBL, WDR62, FOXG1, DHCR7, CDKL5, ARX, HESX1, SOX2, MKS1, SLC9A6, MRPS16, RARS2, TUBA1A, MECP2, SLC25A19, SHH, CEP290, NPHP1, TMEM67, OTX2, CC2D2A, TUBB3, PTEN, UBE3A Specificity 1 % Genes 5 %
Joubert Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67 , (...) View the complete list with 2 more genes Panel GTR000552320 complete gene list B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 5 % Genes 5 %
Bardet-Biedl Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. IFT172, IFT74, SDCCAG8, WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 6 % Genes 5 %
Monogenic Obesity Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. NR0B2, NTRK2, DYRK1B, SIM1, AFF4, PRMT7, IFT172, IFT74, GNAS, KIDINS220, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, SETD2, MC4R, POMC, PCSK1 , (...) View the complete list with 18 more genes Panel GTR000520411 complete gene list NR0B2, NTRK2, DYRK1B, SIM1, AFF4, PRMT7, IFT172, IFT74, GNAS, KIDINS220, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, SETD2, MC4R, POMC, PCSK1, LEPR, LEP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, UCP3, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 3 % Genes 5 %
Joubert/Meckel-Gruber syndrome Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 13 more genes Panel GTR000500621 complete gene list CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Meckel Gruber Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, KIF14, TMEM107, TCTN3, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 7 % Genes 5 %
Nephronophthisis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS Specificity 10 % Genes 10 %
Renal Cystic Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2 , (...) View the complete list with 55 more genes Panel GTR000531706 complete gene list REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, SDCCAG8, WDPCP, WDR19, IFT140, KIAA0586, TMEM231, TFAP2A, DCDC2, SALL1, OFD1, PKD2, UMOD, AHI1, TMEM216, PKHD1, CDC73, TSC1, TSC2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, XPNPEP3, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, JAG1, CC2D2A, INPP5E, HNF1B, INVS, VHL Specificity 4 % Genes 15 %
Nephronophthisis Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS Specificity 10 % Genes 10 %
Bardet-Biedl Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. IFT172, IFT74, SDCCAG8, WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 6 % Genes 5 %
Meckel Gruber Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, KIF14, TMEM107, TCTN3, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 7 % Genes 5 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 13 more genes Panel GTR000560685 complete gene list CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Monogenic Obesity Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. NR0B2, NTRK2, DYRK1B, SIM1, AFF4, PRMT7, IFT172, IFT74, GNAS, KIDINS220, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, SETD2, MC4R, POMC, PCSK1 , (...) View the complete list with 18 more genes Panel GTR000558957 complete gene list NR0B2, NTRK2, DYRK1B, SIM1, AFF4, PRMT7, IFT172, IFT74, GNAS, KIDINS220, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, SETD2, MC4R, POMC, PCSK1, LEPR, LEP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, UCP3, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 3 % Genes 5 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 1 % Genes 10 %
CEP290. By Institute for Human Genetics University Clinic Freiburg in Germany. CEP290 Specificity 100 % Genes 5 %
ExomePLUS Cystic Disease & Dysplasia/Agenesis. By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. REN, MUC1, FRAS1, ANKS6, BMP4, ACE, GATA3, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, HNF1B, WT1 , (...) View the complete list with 2 more genes Panel GTR000552070 complete gene list REN, MUC1, FRAS1, ANKS6, BMP4, ACE, GATA3, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, HNF1B, WT1, EYA1, INVS Specificity 10 % Genes 10 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, FSCN2, CERKL, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT , (...) View the complete list with 33 more genes Panel GTR000501118 complete gene list ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, EYS, LCA5, FSCN2, CERKL, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT, PCARE, CDHR1, NRL, CNGA1, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CEP290, ABCA4, RP1, SPATA7, BEST1, AIPL1 Specificity 27 % Genes 70 %
Comprehensive Brain Malformations Panel. By GeneDx in United States. OCLN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, TSEN2, TSEN34, LAMC3, CASK, OPHN1, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8 , (...) View the complete list with 24 more genes Panel GTR000521226 complete gene list OCLN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, TSEN2, TSEN34, LAMC3, CASK, OPHN1, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, PQBP1, NDE1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E, TUBB3 Specificity 3 % Genes 5 %
CEP290 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CEP290 Specificity 100 % Genes 5 %
CEP290. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CEP290 Specificity 100 % Genes 5 %
CEP290. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CEP290 Specificity 100 % Genes 5 %
NPHP1, NPHP4, CEP290, RPGRIP1L, GLIS2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GLIS2, RPGRIP1L, NPHP4, CEP290, NPHP1 Specificity 20 % Genes 5 %
CEP290. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CEP290 Specificity 100 % Genes 5 %
CEP290. Detection of the mutation c.1219_1220del (p.Met407fs) by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CEP290 Specificity 100 % Genes 5 %
TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ARL13B, CEP41, RPGRIP1L, TMEM237, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A Specificity 10 % Genes 5 %
CEP290. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CEP290 Specificity 100 % Genes 5 %
CEP290. NextGeneDx. Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CEP290 Specificity 100 % Genes 5 %
Joubert syndrome type 5 (sequence analysis of CEP290/NPHP6 gene). By CGC Genetics in Portugal. CEP290 Specificity 100 % Genes 5 %
Leber congenital amaurosis 10 (LCA10, sequence analysis of CEP290 gene). By CGC Genetics in Portugal. CEP290 Specificity 100 % Genes 5 %
Joubert syndrome (NGS panel for 24 genes). By CGC Genetics in Portugal. EXOC8, ZNF423, CSPP1, PDE6D, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, TMEM231, OFD1, AHI1, TMEM216, CEP290 , (...) View the complete list with 4 more genes Panel GTR000523385 complete gene list EXOC8, ZNF423, CSPP1, PDE6D, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 5 % Genes 5 %
Leber congenital amaurosis (NGS panel for 20 genes). By CGC Genetics in Portugal. GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1 Specificity 90 % Genes 90 %
Bardet-Biedl syndrome (NGS panel for 22 genes). By CGC Genetics in Portugal. SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS , (...) View the complete list with 2 more genes Panel GTR000523896 complete gene list SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS, ARL6, TMEM67 Specificity 5 % Genes 5 %
Nephronophthisis (NGS panel for 19 genes). By CGC Genetics in Portugal. ANKS6, CEP83, ZNF423, CEP164, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS Specificity 11 % Genes 10 %
Ciliopathies (NGS panel for 90 genes). By CGC Genetics in Portugal. EXOC8, HYDIN, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TCTN3, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138 , (...) View the complete list with 70 more genes Panel GTR000525208 complete gene list EXOC8, HYDIN, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TCTN3, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, NODAL, TMEM231, DCDC2, OFD1, PKD1, PKD2, AHI1, TMEM216, PKHD1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, XPNPEP3, CCDC28B, CCDC39, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 3 % Genes 10 %
Leber congenital amaurosis (deletions/duplications of GUCY2D, RDH12, RPGRIP1 and CEP290 genes). By CGC Genetics in Portugal. RDH12, GUCY2D, RPGRIP1, CEP290 Specificity 100 % Genes 20 %
Senior-Loken syndrome 6. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CEP290 Specificity 100 % Genes 5 %
Meckel syndrome, type 4. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CEP290 Specificity 100 % Genes 5 %
Joubert syndrome 5. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CEP290 Specificity 100 % Genes 5 %
Leber congenital amaurosis 10. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CEP290 Specificity 100 % Genes 5 %
Bardet-Biedl syndrome 14. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CEP290 Specificity 100 % Genes 5 %
Bardet-Biedl syndrome. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 7 % Genes 5 %
Meckel syndrome 4. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CEP290 Specificity 100 % Genes 5 %
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ANKS6, CEP83, ZNF423, CEP164, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS Specificity 12 % Genes 10 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, RBP3, NR2E3, MAK, CLN3, PRPF31, EYS, LCA5, CERKL, FLVCR1, SEMA4A, PRCD, RD3, RDH12, LRAT , (...) View the complete list with 39 more genes Panel GTR000531406 complete gene list PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, RBP3, NR2E3, MAK, CLN3, PRPF31, EYS, LCA5, CERKL, FLVCR1, SEMA4A, PRCD, RD3, RDH12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, GUCY2D, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGRIP1, SAG, TULP1, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, ABCA4, INPP5E, RP1, SPATA7, NEUROD1, BEST1, AIPL1, ZNF513, ABHD12 Specificity 21 % Genes 60 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DTHD1, PDE6H, NMNAT1, CNGA3, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, GNAT2, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1 , (...) View the complete list with 8 more genes Panel GTR000531408 complete gene list DTHD1, PDE6H, NMNAT1, CNGA3, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, GNAT2, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, CNGB3, OTX2, INPP5E, SPATA7, AIPL1 Specificity 61 % Genes 85 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, CLN3, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5 , (...) View the complete list with 60 more genes Panel GTR000531410 complete gene list PLA2G5, KIAA1549, ADGRA3, ARL2BP, SLC7A14, EMC1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, CLN3, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RD3, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, CACNA1F, ABCA4, INPP5E, RP1, CHM, PRKCG, SPATA7, NEUROD1, BEST1, AIPL1, ZNF513, ABHD12 Specificity 18 % Genes 70 %
Congenital Limb Malformation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2 , (...) View the complete list with 49 more genes Panel GTR000560062 complete gene list LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP, RBM8A, GREM1, MYCN, KIF7, RPGRIP1L, THPO, ERCC4, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, GNAS, TBX5, SALL4, FGF10, PITX1, BMPR1B, CDH3, TP63, GLI3, NOTCH1, DYM, SOX9, NSDHL, CHSY1, SALL1, PIGV, FLNA, FIG4, RAD51C, BRIP1, PALB2, NIPBL, FGFR2, FGFR3, MKS1, DHODH, SHH, CEP290, CC2D2A, COL2A1, RECQL4, BRCA2 Specificity 2 % Genes 5 %
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. IFT172, IFT74, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290 , (...) View the complete list with 4 more genes Panel GTR000505663 complete gene list IFT172, IFT74, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67 Specificity 5 % Genes 5 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZNF423, CSPP1, PDE6D, KIF14, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1 , (...) View the complete list with 8 more genes Panel GTR000505675 complete gene list ZNF423, CSPP1, PDE6D, KIF14, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN, PEX11B, CEP78, KIAA1549, RCBTB1, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, COL18A1, TUBGCP6, TUBGCP4, PLK4, LRP2, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, IFT172, TCTN3, SLC25A46, VSX2, B9D2, ARL13B, IFT80, CPLANE1, CEP41, IFT43, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, GNPTG, ABCC6, PEX6, PRPS1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, HCN1, LARGE1, ISPD, PNPLA6, AHI1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, MVK, WDR35, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, CTNNB1, TMEM231, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, FBLN5, MMACHC, SPATA7, NEUROD1, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 7 % Genes 100 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...) View the complete list with 73 more genes Panel GTR000505776 complete gene list ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, DNAH8, FOXH1, NODAL, TMEM231, DCDC2, OFD1, AHI1, TMEM216, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, CCDC39, RPGR, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 3 % Genes 10 %
Joubert and Meckel-Gruber Syndromes via CEP290 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CEP290 Specificity 100 % Genes 5 %
Leber Congenital Amaurosis 10 (LCA10) via CEP290 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CEP290 Specificity 100 % Genes 5 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NMNAT1, NR2E3, RDH5, PRPF8, EYS, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, PCARE, CNGA1, PDE6A, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RHO , (...) View the complete list with 11 more genes Panel GTR000559508 complete gene list NMNAT1, NR2E3, RDH5, PRPF8, EYS, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, PCARE, CNGA1, PDE6A, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RHO, RPE65, RPGRIP1, TULP1, USH2A, CEP290, KCNJ13, OTX2, RP1, CHM, SPATA7, AIPL1 Specificity 55 % Genes 85 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MAPKBP1, GANAB, SEC61A1, DZIP1L, DNAJB11, DICER1, MUC1, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19 , (...) View the complete list with 21 more genes Panel GTR000561677 complete gene list MAPKBP1, GANAB, SEC61A1, DZIP1L, DNAJB11, DICER1, MUC1, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, COL4A1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, JAG1, HNF1B, LRP5, INVS, VHL Specificity 5 % Genes 10 %
Leber congenital amaurosis and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...) View the complete list with 12 more genes Panel GTR000559212 complete gene list IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, INPP5E, SPATA7, AIPL1 Specificity 60 % Genes 95 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...) View the complete list with 12 more genes Panel GTR000559238 complete gene list IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, INPP5E, SPATA7, AIPL1 Specificity 60 % Genes 95 %
Leber congenital amaurosis and related disorders NGS panel. By Connective Tissue Gene Tests in United States. IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...) View the complete list with 12 more genes Panel GTR000559247 complete gene list IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, INPP5E, SPATA7, AIPL1 Specificity 60 % Genes 95 %
Nephronophthisis and related disorders NGS panel. By Connective Tissue Gene Tests in United States. TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...) View the complete list with 9 more genes Panel GTR000560978 complete gene list TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INVS Specificity 7 % Genes 10 %
Nephronophthisis and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...) View the complete list with 9 more genes Panel GTR000560979 complete gene list TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INVS Specificity 7 % Genes 10 %
Nephronophthisis and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1 , (...) View the complete list with 9 more genes Panel GTR000560980 complete gene list TRAF3IP1, MAPKBP1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, CEP41, NEK8, RPGRIP1L, TMEM138, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INVS Specificity 7 % Genes 10 %
Joubert syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560982 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 5 %
Joubert syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560984 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 5 %
Joubert syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2 , (...) View the complete list with 17 more genes Panel GTR000560985 complete gene list ARMC9, PIBF1, ZNF423, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, C2CD3, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, SUFU, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 5 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 1 % Genes 15 %
CEP290-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. CEP290 Specificity 100 % Genes 5 %
CEP290-Related Bardet-Biedl Syndrome. By Bioscientia GmbH Center for Human Genetics in Germany. CEP290 Specificity 100 % Genes 5 %
CEP290-Related Joubert Syndrome. By Bioscientia GmbH Center for Human Genetics in Germany. CEP290 Specificity 100 % Genes 5 %
CEP290-Related Meckel Syndrome. By Bioscientia GmbH Center for Human Genetics in Germany. CEP290 Specificity 100 % Genes 5 %
Meckel Gruber Syndrome. By GeneTech ATS GeneTech Private Limited in India. MKS1, CEP290, TMEM67, CC2D2A Specificity 25 % Genes 5 %
Nephronophthisis panel. By Centogene AG - the Rare Disease Company in Germany. ANKS6, ZNF423, CEP164, GLIS2, NEK8, RPGRIP1L, SDCCAG8, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 16 % Genes 10 %
Meckel syndrome type 4. By Centogene AG - the Rare Disease Company in Germany. CEP290 Specificity 100 % Genes 5 %
Joubert syndrome type 5. By Centogene AG - the Rare Disease Company in Germany. CEP290 Specificity 100 % Genes 5 %
Bardet Biedl panel. By Centogene AG - the Rare Disease Company in Germany. SDCCAG8, WDPCP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 6 % Genes 5 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 10 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 5 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 5 %
Bardet Biedl Syndrome Panel. By CeGaT GmbH in Germany. IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8 , (...) View the complete list with 4 more genes Panel GTR000522363 complete gene list IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6 Specificity 5 % Genes 5 %
Senior Loken Syndrome Panel. By CeGaT GmbH in Germany. TRAF3IP1, IFT81, ZNF423, CEP164, SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 17 % Genes 10 %
Joubert Syndrome Panel. By CeGaT GmbH in Germany. ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 8 more genes Panel GTR000522386 complete gene list ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Joubert Syndrome Panel. By CeGaT GmbH in Germany. ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 8 more genes Panel GTR000522414 complete gene list ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Bardet Biedl Syndrome Panel. By CeGaT GmbH in Germany. IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8 , (...) View the complete list with 4 more genes Panel GTR000522416 complete gene list IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6 Specificity 5 % Genes 5 %
Cone Rod Dystrophies Panel. By CeGaT GmbH in Germany. ACBD5, PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2 , (...) View the complete list with 20 more genes Panel GTR000522433 complete gene list ACBD5, PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, PCARE, CDHR1, GNAT2, C8orf37, CRB1, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CEP290, CNGB3, CACNA1F, ABCA4, AIPL1 Specificity 18 % Genes 35 %
Joubert Syndrome Panel. By CeGaT GmbH in Germany. ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 8 more genes Panel GTR000522447 complete gene list ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Nephronophthisis Panel. By CeGaT GmbH in Germany. SLC41A1, FAN1, ANKS6, CEP83, ZNF423, CEP164, GLIS2, NEK8, TTC21B, WDR19, DCDC2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS Specificity 11 % Genes 10 %
Senior Loken Syndrome Panel. By CeGaT GmbH in Germany. TRAF3IP1, IFT81, ZNF423, CEP164, SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 17 % Genes 10 %
Ataxia and differential diagnoses Panel. By CeGaT GmbH in Germany. RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...) View the complete list with 184 more genes Panel GTR000522481 complete gene list RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1, ERCC5, SCYL1, RNF216, RNASEH1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, GRID2, LAMA1, SLC52A2, ATCAY, BEAN1, CACNA1G, ATP2B3, ATP8A2, RARS, UBA5, COX20, CA8, CCDC88C, DNAJC3, MARS2, VLDLR, ARL13B, RPGRIP1L, ERCC4, CP, WNT1, GBA2, UCHL1, KIF1C, ERCC6, GMPPB, NKX2-1, NALCN, CLCN2, NEU1, PEX10, PRPS1, DNMT1, POLR1C, ERCC3, ERCC2, GFAP, KCNJ10, PNKP, SNAP25, KCNA2, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, PRRT2, LMNB2, EPM2A, KCNC1, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE1, NHLRC1, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, TRAPPC11, SYNE1, VRK1, SETX, PNPLA6, BSCL2, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, AHI1, CSTB, EIF2B4, EIF2B2, EIF2B3, GJB1, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SLC17A5, SACS, PEX7, PEX2, MTTP, CLN6, MRE11, ATM, ATXN1, NPC2, NPC1, EIF2B1, GBA, ARSA, PDHX, WWOX, TPP1, APTX, PMM2, CYP27A1, FASTKD2, FXN, GCDH, L2HGDH, GALC, DLAT, NAGLU, NDUFS7, PHYH, HEXB, ALDH5A1, HEXA, ABCB7, ALG6, SPG7, COQ2, PDP1, FLVCR1, DNAJC19, TSFM, DARS2, COQ8A, SPR, NUBPL, MTPAP, TTC19, ACO2, PDSS1, PDSS2, COQ9, OPA3, AFG3L2, POLG, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, WFS1, OPA1, AMACR, INPP5E, PAX6, PRKCG, TWNK, AUH, ATP7B, BTD, UQCRQ, ABHD12, AARS2, FMR1 Specificity 1 % Genes 5 %
Meckel Syndrome Panel. By CeGaT GmbH in Germany. B9D2, RPGRIP1L, TCTN2, B9D1, WDPCP, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 9 % Genes 5 %
Senior-Loken Syndrome Panel. By CeGaT GmbH in Germany. TRAF3IP1, IFT81, ZNF423, CEP164, SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 17 % Genes 10 %
Bardet-Biedl Syndrome Panel. By CeGaT GmbH in Germany. IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8 , (...) View the complete list with 4 more genes Panel GTR000522505 complete gene list IFT172, TTC21B, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6 Specificity 5 % Genes 5 %
Joubert Syndrome Panel. By CeGaT GmbH in Germany. ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 8 more genes Panel GTR000522507 complete gene list ZNF423, CEP164, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Leber Congenital Amaurosis Panel. By CeGaT GmbH in Germany. NMNAT1, RDH5, LCA5, IQCB1, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1 Specificity 80 % Genes 80 %
Leber Congenital Amaurosis. By Asper Biogene Asper Biogene LLC in Estonia. GDF6, NMNAT1, LCA5, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1 Specificity 100 % Genes 85 %
Bardet Biedl Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. GNAS, SDCCAG8, WDPCP, LZTFL1, PHF6, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS , (...) View the complete list with 2 more genes Panel GTR000506625 complete gene list GNAS, SDCCAG8, WDPCP, LZTFL1, PHF6, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CCDC28B, TRIM32, TTC8, CEP290, MKKS, ARL6, TMEM67 Specificity 5 % Genes 5 %
Joubert Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. ZNF423, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231 , (...) View the complete list with 9 more genes Panel GTR000553398 complete gene list ZNF423, CSPP1, PDE6D, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Brain malformations. By Asper Biogene Asper Biogene LLC in Estonia. CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...) View the complete list with 125 more genes Panel GTR000553541 complete gene list CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3, NHEJ1, AKT3, PIK3R2, DHCR24, VLDLR, IER3IP1, RAB18, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, EFTUD2, KIF11, AP4M1, RAB3GAP2, TUBB4A, CHMP1A, PIEZO2, GMPPB, POMK, GPSM2, ATR, PCNT, CDK5RAP2, CEP152, TUBB2A, TSEN2, TSEN34, EXOSC3, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FAT4, TMEM231, LAMC3, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, ATRX, OFD1, KIF1BP, TCF4, PNKP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, ASPM, MCPH1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, VRK1, DYNC1H1, WASHC5, FKRP, AHI1, TMEM216, SLC12A6, POMGNT1, PEX1, PEX2, FKTN, NBN, WDR62, DHCR7, CREBBP, ARX, PDHX, MKS1, ETFDH, ETFA, ETFB, DLAT, PDHA1, AMT, GLDC, GCSH, PDP1, RARS2, TUBA1A, PDHB, MECP2, SLC25A19, DLD, CEP290, NPHP1, TMEM67, SRD5A3, ATP6V0A2, CC2D2A, INPP5E, TUBB3 Specificity 1 % Genes 5 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC in Estonia. ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...) View the complete list with 255 more genes Panel GTR000553865 complete gene list ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ITM2B, LAMA1, FRAS1, FREM2, GRIP1, B3GLCT, PRSS56, GDF3, BMP4, CRYBA4, VSX2, FREM1, VAX1, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, FTL, GJA1, CFH, CTDP1, KIF11, C19orf12, SDCCAG8, WDPCP, LZTFL1, WDR19, RBP4, CHST6, CDH3, IFT140, GDF6, GPR179, CNNM4, PDE6H, RAX2, RAB28, UNC119, GNPTG, ZNF469, ABCC6, PRDM5, NAA10, MVK, SLC4A11, COL11A2, COL11A1, COL9A2, GIPC3, COL9A1, CIB2, VPS13B, TREX1, OFD1, MFSD8, COL4A1, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, GSN, TEAD1, PAX2, KRT3, KRT12, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, SIX6, CNGA3, GALK1, GALT, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GJA3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, GFER, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, FYCO1, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, AGK, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, CRYAB, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, CC2D2A, WFS1, ABCB6, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, TGFBI, CHM, ZEB1, PAX6, SLC45A2, VSX1, COL2A1, LRP5, TYRP1, SPATA7, OPN1MW, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 7 % Genes 95 %
Retinal Dystrophy Panel. By Molecular Vision Laboratory in United States. CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...) View the complete list with 267 more genes Panel GTR000522537 complete gene list CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, TUBGCP6, TUBGCP4, PLK4, ZNF423, CEP164, CSPP1, PDE6D, IFT172, TCTN3, SLC25A46, B9D2, MT-TV, MT-TH, MT-ND4L, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, MT-ND5, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, ABCC6, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TMEM231, PRPS1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, CTSF, HCN1, KCTD7, PNPLA6, MT-ND4, MT-ND6, MT-ND1, AHI1, MT-TL1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, RP2, PRPF8, PRPF31, PEX6, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, LRP5, MMACHC, SPATA7, NEUROD1, OPN1LW, OPN1MW, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 7 % Genes 95 %
Bardet-Biedl syndrome panel. By Molecular Vision Laboratory in United States. IFT172, SDCCAG8, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290, MKKS, NPHP1 , (...) View the complete list with 3 more genes Panel GTR000523343 complete gene list IFT172, SDCCAG8, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, KCNJ13, INPP5E Specificity 9 % Genes 10 %
Leber congenital amaurosis panel. By Molecular Vision Laboratory in United States. IFT140, GDF6, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13 , (...) View the complete list with 3 more genes Panel GTR000523347 complete gene list IFT140, GDF6, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1 Specificity 83 % Genes 95 %
Joubert Syndrome Panel. By Molecular Vision Laboratory in United States. CSPP1, IFT172, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290 , (...) View the complete list with 5 more genes Panel GTR000552244 complete gene list CSPP1, IFT172, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Senior-Loken Syndrome panel. By Molecular Vision Laboratory in United States. IQCB1, NPHP4, CEP290, NPHP1 Specificity 50 % Genes 10 %
CEP290 single gene sequencing. By Molecular Vision Laboratory in United States. CEP290 Specificity 100 % Genes 5 %
MVL Vision Panel. By Molecular Vision Laboratory in United States. CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...) View the complete list with 248 more genes Panel GTR000559625 complete gene list CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, TUBGCP6, TUBGCP4, PLK4, ZNF423, CEP164, CSPP1, PDE6D, IFT172, TCTN3, SLC25A46, MT-TV, MT-TH, MT-ND4L, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, CFH, MT-ND5, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, RBP4, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TMEM231, PEX6, PRPS1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, CTSF, HCN1, KCTD7, PNPLA6, MT-ND4, MT-ND6, MT-ND1, MT-TL1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, LRP5, MMACHC, SPATA7, NEUROD1, OPN1LW, OPN1MW, INVS, C12orf65, BEST1, USH1C, USH1G, ZNF513 Specificity 7 % Genes 90 %
qChip. By Quantitative Genomic Medicine Laboratories, SL in Spain. SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...) View the complete list with 106 more genes Panel GTR000521292 complete gene list SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA, SATB2, EP300, TBX5, SALL4, LHX4, NR5A1, SH2D1A, NKX2-5, TP63, MITF, SNRPN, GLI3, TGFBR2, TGFBR1, ZIC2, TGIF1, SOX9, TWIST1, IL1RAPL1, SOX3, CLCNKA, EHMT1, GATA3, PAX3, SALL1, SHANK3, ZEB2, PAK3, OFD1, ADGRG1, PAFAH1B1, RELN, SIX3, EMX2, DCX, PKD1, COL4A5, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, ANOS1, CASR, SHOX, NR0B1, NF1, AHI1, MAPT, SCN1A, PMP22, BTK, SMAD4, BMPR1A, NF2, PTCH1, NSD1, NIPBL, SMC1A, TSC2, MAP2K2, SRY, SOS1, RUNX2, RAI1, PTPN11, PLP1, MAP2K1, KRAS, DHCR7, CHD7, CDKL5, BRAF, ARX, LMX1B, SOX2, TIMM8A, GK, HCCS, OTC, RS1, FBN1, MECP2, SHH, CEP290, NPHP1, NDP, JAG1, PITX2, OCRL, ELN, HNF1B, LEMD3, RB1, PAX6, WT1, APP, OCA2, COL2A1, EYA1, FOXL2, TP53, PTEN, APC, UBE3A, FMR1 Specificity 1 % Genes 5 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA, F8, F9, JAK3, THRB, F11, PGK1, DNAH5, CHST6, CASQ2, TRDN, THOC2, IL1RAPL1, SLC16A2, BRWD3, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, AFF2, HUWE1, PHF8, MVK, PEX10, NLGN4X, AP1S2, TPRN, TRIOBP, TMIE, PEX6, GJB3, TMC1, PRPS1, TMPRSS3, SLC4A11, STRC, POLR1C, OTOF, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, GRIA3, FGD1, IQSEC2, ATRX, MFSD8, PQBP1, DCX, POMT1, POMT2, TNNT1, SPART, L1CAM, BSND, COL4A4, CYP21A2, GNRHR, KCNJ11, DYSF, FKRP, CLCN1, AHI1, SPG11, ZFYVE26, GDAP1, MTMR2, SH3TC2, NDRG1, TMEM216, PKHD1, LAMC2, CLN5, CAPN3, TTPA, PEX1, MPL, MCOLN1, GRHPR, TH, UGT1A1, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, CTNS, NEB, G6PD, FKTN, LAMB3, HBA1, CLN8, CLN6, NBN, ATM, SMN1, RMRP, POU3F4, PLP1, PLOD1, NPC2, NPC1, LIPA, LDLR, IDUA, IDS, GLA, GJB2, DMD, DHCR7, GBA, FANCC, CFTR, ARX, ASPA, ARSA, AR, AIRE, IL2RG, GNMT, ARSB, AHCY, AGA, ADA, ABCD4, NR2E3, SLC6A8, CYP17A1, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, ALDH4A1, IVD, GALC, SUCLG1, MLYCD, MAN2B1, DBT, MUT, MMAB, MCEE, SGSH, NAGLU, HGSNAT, GNS, GALNS, CPT1A, SURF1, AGXT, PAH, PTS, ACOX1, HEXB, HEXA, LMBRD1, MMADHC, ABCD1, ACSL4, OTC, RP2, AGPS, MYO7A, ETHE1, EYS, AMT, GLDC, PCCB, SPG7, CERKL, ACADSB, CTSD, TSFM, TUFM, HAX1, P3H1, SUCLA2, RDH12, CNGA1, G6PC, TAT, HMGCL, FAH, RS1, CNGB1, PDE6A, DHDDS, PDHB, ACSF3, IDH3B, CDH23, WHRN, SLC26A4, MECP2, CRB1, GUCY2D, RPE65, RPGR, TULP1, FH, HADHA, PANK2, SLC25A13, DLD, PCDH15, USH2A, CLRN1, CEP290, NPHP1, TMEM67, CNGB3, NDP, ABCA4, OCRL, GLB1, GNPTAB, CPT2, CPS1, MTRR, GPR143, TYR, SLC45A2, TYRP1, RAX, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, HLCS, ARG1, USH1C, PC, USH1G, ALDOB, AIPL1, ACAT1, ACADVL, AGL, ACADS, ACADM, CD40LG, LDLRAP1, PCBD1, SLC46A1, EVC2, ABCB11, MCCC2, MCCC1, MTHFR, FMR1, F5, F2 Specificity 3 % Genes 35 %
Invitae Congenital Heart Defects and Heterotaxy Panel. By Invitae in United States. MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...) View the complete list with 62 more genes Panel GTR000528542 complete gene list MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, NOTCH1, FOXH1, NODAL, TBX1, OFD1, NF1, GPC3, NSD1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CHD7, BRAF, ALMS1, BBS10, MKS1, BCOR, CCDC39, RPGR, RAF1, TTC8, CEP290, NPHP3, JAG1, ELN, INVS Specificity 2 % Genes 5 %
Invitae Senior-Loken Syndrome Panel. By Invitae in United States. SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 25 % Genes 10 %
Invitae Bardet-Biedl Syndrome Panel. By Invitae in United States. SDCCAG8, WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 7 % Genes 5 %
Invitae Nephronophthisis Panel. By Invitae in United States. ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TCTN1, TMEM237, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3 , (...) View the complete list with 7 more genes Panel GTR000514971 complete gene list ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TCTN1, TMEM237, TTC21B, SDCCAG8, WDR19, DCDC2, OFD1, AHI1, TMEM216, PKHD1, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INVS Specificity 8 % Genes 10 %
Invitae Joubert and Meckel-Gruber Syndromes Panel. By Invitae in United States. ZNF423, CSPP1, PDE6D, CEP104, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1 , (...) View the complete list with 10 more genes Panel GTR000514978 complete gene list ZNF423, CSPP1, PDE6D, CEP104, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MRE11, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 4 % Genes 5 %
Invitae Ciliopathies Panel. By Invitae in United States. WDR34, WDR60, NEK1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, CEP120, CEP104, IFT172, TCTN3, B9D2, IFT122, EVC2, EVC, ARL13B, GLIS2 , (...) View the complete list with 82 more genes Panel GTR000514989 complete gene list WDR34, WDR60, NEK1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, CEP120, CEP104, IFT172, TCTN3, B9D2, IFT122, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, SDCCAG8, WDPCP, WDR19, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, IFT140, WDR35, KIAA0586, TMEM231, DCDC2, OFD1, PKD2, AHI1, TMEM216, PKHD1, MRE11, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, XPNPEP3, CCDC39, RPGR, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 3 % Genes 15 %
Invitae Leber Congenital Amaurosis Panel. By Invitae in United States. GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1 Specificity 90 % Genes 85 %
Bardet-Biedl syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SDCCAG8, WDPCP, BBIP1, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 6 % Genes 5 %
Leber Congenital Amaurosis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1 Specificity 100 % Genes 85 %
Nephronophthisis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ANKS6, GLIS2, NEK8, RPGRIP1L, SDCCAG8, AHI1, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 17 % Genes 10 %
Meckel syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. B9D2, RPGRIP1L, TCTN2, B9D1, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 10 % Genes 5 %
Joubert syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A Specificity 7 % Genes 5 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...) View the complete list with 16 more genes Panel GTR000512362 complete gene list RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, GUCA1B, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CEP290, CNGB3, CACNA1F, ABCA4, PAX6, BEST1, AIPL1 Specificity 14 % Genes 25 %
Bardet-Biedl Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SDCCAG8, WDPCP, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 6 % Genes 5 %
Eye Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 190 more genes Panel GTR000512373 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, LRMDA, SLC24A5, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, ATP13A2, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CYP27A1, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 8 % Genes 80 %
Joubert Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZNF423, TCTN3, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A Specificity 6 % Genes 5 %
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1 Specificity 89 % Genes 80 %
Senior-Loken Syndrome: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SDCCAG8, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 29 % Genes 10 %
Ciliopathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...) View the complete list with 92 more genes Panel GTR000512415 complete gene list HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, WDR35, TMEM231, OFD1, PKD2, SCNN1B, SCNN1G, SCNN1A, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, AIPL1, VHL Specificity 15 % Genes 80 %
Brain Malformations: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...) View the complete list with 30 more genes Panel GTR000512588 complete gene list RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, RAB3GAP1, PQBP1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, WDR62, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, TUBB3 Specificity 2 % Genes 5 %
Limb Malformation: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, PTHLH, ARHGAP31, HOXD13, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP , (...) View the complete list with 26 more genes Panel GTR000512604 complete gene list LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, PTHLH, ARHGAP31, HOXD13, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP, GREM1, MYCN, KIF7, RPGRIP1L, THPO, GNAS, TBX5, SALL4, FGF10, PITX1, BMPR1B, CDH3, TP63, GLI3, SOX9, CHSY1, SALL1, PIGV, NIPBL, FGFR2, FGFR3, MKS1, SHH, CEP290, CC2D2A, RECQL4 Specificity 3 % Genes 5 %
Neurology: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...) View the complete list with 144 more genes Panel GTR000512608 complete gene list MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, ATR, PCNT, CDK5RAP2, GLI2, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, EHMT1, LAMC3, ACTG1, ACTB, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, ATRX, KIF1BP, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, LARGE1, CACNB4, POMT1, POMT2, VRK1, FGF8, FKRP, AHI1, SCN1A, CSTB, TMEM216, CLN5, POMGNT1, PPT1, FKTN, CLN8, CLN6, PTCH1, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, DHCR7, CDKL5, ARX, CLN3, TPP1, MKS1, ALDH7A1, SLC9A6, SLC25A22, CTSD, RARS2, TUBA1A, STXBP1, GATM, GAMT, LIAS, MECP2, SLC25A19, POLG, SHH, CEP290, ADGRV1, NPHP1, TMEM67, CC2D2A, TUBB3, ADSL, UBE3A Specificity 1 % Genes 5 %
Skeletal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...) View the complete list with 143 more genes Panel GTR000512649 complete gene list SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4, MATN3, GDF5, PTHLH, HPGD, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, NKX3-2, CHST3, HOXD13, GPC6, MMP2, WISP3, DMP1, SLC34A3, CLCN5, ENPP1, TBCE, OBSL1, CUL7, LRP4, NEK1, ICK, WNT7A, TBX15, ROR2, ESCO2, DYNC2H1, WNT5A, TCTN3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, TREM2, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, KIF7, RPGRIP1L, THPO, GORAB, SERPINH1, GNAS, TBX5, SALL4, FGF10, ZMPSTE24, PITX1, BMPR1B, SH3PXD2B, CDH3, IFT140, TP63, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, CHSY1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, LMNA, TRPV4, TMEM216, SLC26A2, PRKAR1A, CDKN1C, NIPBL, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, MKS1, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, PLOD2, CRTAP, P3H1, SLC39A13, SLC25A12, SP7, FBN1, SHH, CEP290, TMEM67, ATP6V0A2, CC2D2A, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 2 % Genes 10 %
Retina/Photoreceptor Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...) View the complete list with 100 more genes Panel GTR000523294 complete gene list C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, RP9, CLN3, CYP4V2, CNGA3, GRM6, OAT, TIMM8A, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, USH2A, TTC8, CLRN1, CEP290, KCNJ13, CNGB3, OTX2, NDP, CACNA1F, ABCA4, ELOVL4, OPA1, RP1, CHM, PAX6, COL2A1, LRP5, SPATA7, BEST1, AIPL1, ZNF513 Specificity 14 % Genes 80 %
Congenital Obesity: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NR0B2, NTRK2, SIM1, GNAS, SDCCAG8, WDPCP, MAGEL2, VPS13B, PHF6, MC4R, POMC, PCSK1, LEPR, LEP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9 , (...) View the complete list with 9 more genes Panel GTR000523312 complete gene list NR0B2, NTRK2, SIM1, GNAS, SDCCAG8, WDPCP, MAGEL2, VPS13B, PHF6, MC4R, POMC, PCSK1, LEPR, LEP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 4 % Genes 5 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...) View the complete list with 16 more genes Panel GTR000558528 complete gene list RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, GUCA1B, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CEP290, CNGB3, CACNA1F, ABCA4, PAX6, BEST1, AIPL1 Specificity 14 % Genes 25 %
Bardet-Biedl Syndrome: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SDCCAG8, WDPCP, LZTFL1, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 6 % Genes 5 %
Brain Malformations: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...) View the complete list with 30 more genes Panel GTR000558548 complete gene list RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, RAB3GAP1, PQBP1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, VRK1, FKRP, AHI1, TMEM216, POMGNT1, FKTN, WDR62, ARX, MKS1, RARS2, TUBA1A, CEP290, NPHP1, TMEM67, CC2D2A, TUBB3 Specificity 2 % Genes 5 %
Ciliopathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 76 more genes Panel GTR000558619 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, FOXH1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 17 % Genes 80 %
Eye Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 187 more genes Panel GTR000559618 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 8 % Genes 80 %
Joubert Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, TMEM67, CC2D2A Specificity 6 % Genes 5 %
Ciliopathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 75 more genes Panel GTR000505731 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, CFTR, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 17 % Genes 80 %
Bardet-Biedl Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SDCCAG8, WDPCP, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 7 % Genes 5 %
Eye Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...) View the complete list with 118 more genes Panel GTR000506412 complete gene list RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1, RBP3, PRPF3, NR2E3, PAX2, EFEMP1, TIMP3, MYOC, RP9, CLN3, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP4V2, GRM6, OAT, PHYH, BCOR, TIMM8A, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, FSCN2, CERKL, RGS9, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, MERTK, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, PRPH2, PCDH15, NPHP4, TRIM32, CEP290, MKKS, NPHP1, NPHP3, KCNJ13, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, OPTN, RP1, RB1, CHM, PAX6, COL2A1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 12 % Genes 80 %
Diabetes-Obesity NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. NTRK2, SIM1, EIF2AK3, PTF1A, NEUROG3, GLIS3, RFX6, BDNF, GNAS, SDCCAG8, WDPCP, MAGEL2, FOXP3, HNF4A, PDX1, INS, MC4R, KCNJ11, CEL, ABCC8 , (...) View the complete list with 24 more genes Panel GTR000509392 complete gene list NTRK2, SIM1, EIF2AK3, PTF1A, NEUROG3, GLIS3, RFX6, BDNF, GNAS, SDCCAG8, WDPCP, MAGEL2, FOXP3, HNF4A, PDX1, INS, MC4R, KCNJ11, CEL, ABCC8, POMC, PCSK1, LEPR, LEP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, GCK, TRIM32, TTC8, CEP290, MKKS, ARL6, WFS1, HNF1B, NEUROD1, HNF1A Specificity 3 % Genes 5 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 1 % Genes 5 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2 Specificity 1 % Genes 5 %
Joubert and Meckel NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. PMPCA, B9D2, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN2, TMEM138, TMEM237, B9D1, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A Specificity 6 % Genes 5 %
Nephronophthisis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GLIS2, NEK8, RPGRIP1L, SDCCAG8, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 20 % Genes 10 %
Senior-Loken Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SDCCAG8, NPHP4, CEP290, NPHP1, NPHP3 Specificity 20 % Genes 5 %
Retinitis Pigmentosa NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7 , (...) View the complete list with 68 more genes Panel GTR000509465 complete gene list RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, PHYH, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, IQCB1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, MKKS, NPHP1, NPHP3, ARL6, CACNA1F, ABCA4, WFS1, RP1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 14 % Genes 60 %
Congenital Hepatic Fibrosis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EVC2, EVC, ARL13B, GLIS2, IFT80, NEK8, RPGRIP1L, TTC21B, OFD1, PKD1, PKD2, AHI1, PKHD1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12 , (...) View the complete list with 14 more genes Panel GTR000511140 complete gene list EVC2, EVC, ARL13B, GLIS2, IFT80, NEK8, RPGRIP1L, TTC21B, OFD1, PKD1, PKD2, AHI1, PKHD1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INVS Specificity 6 % Genes 10 %
Skeletal Dysplasias NGS panel. By Fulgent Genetics Fulgent Genetics in United States. SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...) View the complete list with 141 more genes Panel GTR000515853 complete gene list SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4, MATN3, GDF5, PTHLH, HPGD, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, NKX3-2, CHST3, HOXD13, GPC6, MMP2, WISP3, DMP1, SLC34A3, CLCN5, ENPP1, TBCE, OBSL1, CUL7, LRP4, NEK1, ICK, WNT7A, TBX15, ROR2, ESCO2, DYNC2H1, WNT5A, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, TREM2, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, KIF7, RPGRIP1L, THPO, GORAB, SERPINH1, GNAS, TBX5, SALL4, FGF10, ZMPSTE24, PITX1, BMPR1B, SH3PXD2B, CDH3, IFT140, TP63, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, CHSY1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, FGFR1, LMNA, TRPV4, TMEM216, SLC26A2, PRKAR1A, CDKN1C, NIPBL, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, MKS1, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, PLOD2, CRTAP, P3H1, SLC39A13, SLC25A12, SP7, FBN1, SHH, CEP290, TMEM67, ATP6V0A2, CC2D2A, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 2 % Genes 10 %
CEP290. By Fulgent Genetics Fulgent Genetics in United States. CEP290 Specificity 100 % Genes 5 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 1 % Genes 5 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR Specificity 2 % Genes 15 %
Senior-Loken Syndrome Panel. By Blueprint Genetics in Finland. TRAF3IP1, SDCCAG8, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 25 % Genes 10 %
Nephronophthisis Panel. By Blueprint Genetics in Finland. MAPKBP1, ANKS6, CEP83, ZNF423, CEP164, IFT172, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, DCDC2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, INVS Specificity 10 % Genes 10 %
Monogenic Obesity Panel. By Blueprint Genetics in Finland. KSR2, ADCY3, MC3R, NR0B2, NTRK2, DYRK1B, SIM1, GNAS, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, MC4R, POMC, PCSK1, LEPR, LEP, ALMS1 , (...) View the complete list with 16 more genes Panel GTR000552720 complete gene list KSR2, ADCY3, MC3R, NR0B2, NTRK2, DYRK1B, SIM1, GNAS, SDCCAG8, WDPCP, MAGEL2, VPS13B, CUL4B, PHF6, MC4R, POMC, PCSK1, LEPR, LEP, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, UCP3, TRIM32, TTC8, CEP290, MKKS, ARL6, PPARG Specificity 3 % Genes 5 %
Cystic Kidney Disease Panel. By Blueprint Genetics in Finland. MAPKBP1, GANAB, SEC61A1, DZIP1L, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, SIX5, DCDC2, OFD1 , (...) View the complete list with 20 more genes Panel GTR000552730 complete gene list MAPKBP1, GANAB, SEC61A1, DZIP1L, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, SIX5, DCDC2, OFD1, COL4A1, PKD1, PKD2, UMOD, PKHD1, TSC1, TSC2, PAX2, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, JAG1, HNF1B, LRP5, EYA1, INVS, VHL Specificity 5 % Genes 10 %
Retinal Dystrophy Panel. By Blueprint Genetics in Finland. ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...) View the complete list with 240 more genes Panel GTR000552782 complete gene list ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1, COL18A1, LRP2, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP104, IFT172, TCTN3, SLC25A46, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CTC1, KIF11, SDCCAG8, WDPCP, BBIP1, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, SPP2, DHX38, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, DTHD1, GPR179, LRIT3, GNB3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, GNPTG, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CTNNB1, TMEM231, PEX6, PRPS1, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, PNPLA6, AHI1, TMEM216, TTPA, PEX1, PEX7, PEX2, MTTP, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, ALMS1, CLN3, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, KIAA0586, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, MMACHC, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 8 % Genes 95 %
Leber Congenital Amaurosis Panel. By Blueprint Genetics in Finland. CWC27, DTHD1, NMNAT1, RDH5, ALMS1, BBS4, CNGA3, MYO7A, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65 , (...) View the complete list with 6 more genes Panel GTR000552798 complete gene list CWC27, DTHD1, NMNAT1, RDH5, ALMS1, BBS4, CNGA3, MYO7A, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1 Specificity 66 % Genes 85 %
Ataxia Panel. By Blueprint Genetics in Finland. CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...) View the complete list with 137 more genes Panel GTR000552801 complete gene list CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5, SERAC1, COX20, CA8, CCDC88C, ZNF423, TCTN3, SLC25A46, GSS, SLC20A2, MARS2, VLDLR, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, COASY, CP, CYP2U1, GBA2, TUBB4A, KIF1C, CAPN1, WDPCP, FBXL4, MME, CLCN2, TMEM231, LARS2, DNMT1, CLPP, GFAP, CASK, OPHN1, OFD1, KCNJ10, PNKP, PRRT2, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, FA2H, PNPLA6, CACNA1A, PPP2R2B, AHI1, CSTB, ZFYVE26, TMEM216, CLN5, TTPA, SACS, PEX7, MTTP, MRE11, ATM, SLC2A1, MTFMT, HARS2, PNKD, WWOX, TPP1, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP27A1, LRPPRC, FXN, HIBCH, NDUFS2, NDUFV1, NDUFAF6, NDUFS7, NDUFS8, PHYH, ALDH5A1, SLC9A6, ABCB7, SPG7, FLVCR1, DNAJC19, COQ8A, NUBPL, MTPAP, TTC19, ACO2, AFG3L2, NDUFS4, POLG, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, PAX6, PRKCG, TWNK, ABHD12, FDXR, FMR1 Specificity 1 % Genes 5 %
Joubert Syndrome Panel. By Blueprint Genetics in Finland. ARMC9, KIAA0753, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138 , (...) View the complete list with 16 more genes Panel GTR000552667 complete gene list ARMC9, KIAA0753, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, TCTN3, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFAP410, KIAA0586, TMEM231, OFD1, AHI1, TMEM216, MKS1, CEP290, NPHP1, NPHP3, TMEM67, CC2D2A, INPP5E Specificity 3 % Genes 5 %
Retinitis Pigmentosa Panel. By Blueprint Genetics in Finland. REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140 , (...) View the complete list with 90 more genes Panel GTR000552739 complete gene list REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140, CFAP410, GNPTG, MVK, VPS13B, OFD1, AHI1, TTPA, PEX1, PEX7, PEX2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RDH5, CLN3, BBS2, BBS1, CYP4V2, HK1, HGSNAT, OAT, PHYH, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, RIMS1, LCA5, C1QTNF5, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, RS1, CNGB1, RGR, PDE6A, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, ABCA4, INPP5E, RP1, CHM, PRKCG, SPATA7, BEST1, USH1C, AIPL1, ZNF513, ABHD12 Specificity 14 % Genes 75 %
Ciliopathy Panel. By Blueprint Genetics in Finland. ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14 , (...) View the complete list with 79 more genes Panel GTR000552623 complete gene list ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP120, CEP104, KIAA0556, IFT172, C2CD3, TCTN3, B9D2, ACVR2B, LEFTY2, IFT122, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, BBIP1, LZTFL1, WDR19, CENPF, IFT140, POC1B, CFAP410, GLI3, GLI2, NODAL, USP9X, WDR35, KIAA0586, TMEM231, DCDC2, OFD1, PNPLA6, PKD1, PKD2, AHI1, TMEM216, PKHD1, DHCR7, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, IQCB1, C8orf37, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 4 % Genes 15 %
Congenital Hepatic Fibrosis Panel. By Blueprint Genetics in Finland. NR1H4, ANKS6, ZNF423, CEP164, TCTN3, BAAT, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1 , (...) View the complete list with 32 more genes Panel GTR000552627 complete gene list NR1H4, ANKS6, ZNF423, CEP164, TCTN3, BAAT, B9D2, ARL13B, GLIS2, CPLANE1, CEP41, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, WDR19, WDR35, TMEM231, DCDC2, OFD1, PKD2, AHI1, TMEM216, PKHD1, LIPA, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 4 % Genes 10 %
Bardet-Biedl Syndrome Panel. By Blueprint Genetics in Finland. IFT172, SDCCAG8, WDPCP, BBIP1, LZTFL1, PNPLA6, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290 , (...) View the complete list with 3 more genes Panel GTR000552633 complete gene list IFT172, SDCCAG8, WDPCP, BBIP1, LZTFL1, PNPLA6, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, C8orf37, TRIM32, TTC8, CEP290, MKKS, ARL6, TMEM67 Specificity 5 % Genes 5 %
Meckel Syndrome Panel. By Blueprint Genetics in Finland. KIF14, TMEM107, B9D2, RPGRIP1L, TCTN2, B9D1, TMEM231, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 8 % Genes 5 %
Joubert syndrome type 5. By Bioarray in Spain. CEP290 Specificity 100 % Genes 5 %
Leber congenital amaurosis. By Bioarray in Spain. CEP290 Specificity 100 % Genes 5 %
Meckel syndrome type 4. By Bioarray in Spain. CEP290 Specificity 100 % Genes 5 %
CarrierMap. By Recombine in United States. VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37, EDA, CIITA, COL7A1, SLC39A4, ERCC8, RAG2, VSX2, EIF2AK3, LPL, EVC2, EVC, FANCG, FANCA, F8, F9, SRD5A2, MEFV, TECPR2, ERCC6, DNAI1, DNAI2, LYST, CTSC, EXOSC3, POR, RAB23, CHRNG, PEX10, LOXHD1, PEX6, PRPS1, SLC4A11, MYO15A, ATP6V1B1, VPS13A, VPS13B, MFSD8, TSEN54, SGCD, EMD, VRK1, MTM1, COL4A5, BSND, SLC12A3, COL4A4, CYP21A2, KCNJ11, LHCGR, DYSF, FKRP, NTRK1, GJB1, TMEM216, TGM1, RAPSN, PKHD1, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, BRIP1, NBN, ATM, SMN1, RMRP, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AR, AIRE, IL2RG, ARSB, AGA, ADA, NR2E3, CYP17A1, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, BBS12, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, CBS, SLC25A15, IVD, GALC, MLYCD, MAN2B1, DBT, MUT, MMAA, MMAB, NDUFS6, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, MPV17, TCIRG1, AGXT, PAH, PTS, ACOX1, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, PDHA1, OTC, PUS1, MYO7A, ETHE1, MPI, TYMP, ALG6, LCA5, AMT, GLDC, PCCA, PCCB, CERKL, HADHB, HAX1, RARS2, RDH12, GAMT, G6PC, TAT, FAM161A, HSD3B2, HMGCL, FAH, RS1, DHDDS, HPS3, PDHB, HPS1, CDH23, SLC26A4, CYP11B2, SMPD1, GUCY2D, RLBP1, RPE65, FH, OPA3, HADHA, SLC25A13, CYP11B1, POLG, DLD, PCDH15, USH2A, TRIM32, CLRN1, CEP290, CYP1B1, ABCA4, OCRL, GNE, GLB1, GNPTAB, TRMU, CPT2, HSD17B4, ABCA12, SLC37A4, TYR, CHM, SLC45A2, STAR, TYRP1, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, USH1C, PC, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, ABCB11, MCCC2, MCCC1, HPS4, MTHFR, FMR1 Specificity 2 % Genes 25 %
Cystic Disease and Nephronopthisis Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. BICC1, CRB2, GLIS2, NEK8, RPGRIP1L, TTC21B, SIX5, PKD1, PKD2, UMOD, AHI1, PKHD1, PAX2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67 , (...) View the complete list with 3 more genes Panel GTR000552013 complete gene list BICC1, CRB2, GLIS2, NEK8, RPGRIP1L, TTC21B, SIX5, PKD1, PKD2, UMOD, AHI1, PKHD1, PAX2, IQCB1, XPNPEP3, NPHP4, CEP290, NPHP1, NPHP3, TMEM67, HNF1B, EYA1, INVS Specificity 9 % Genes 10 %
BARDET-BIEDL SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 8 % Genes 5 %
MECKEL SYNDROME (MECKEL-GRUBER). By Laboratorio de Genetica Clinica SL in Spain. RPGRIP1L, TMEM216, MKS1, CEP290, TMEM67, CC2D2A Specificity 17 % Genes 5 %
JOUBERT SYNDROME (JBTS). By Laboratorio de Genetica Clinica SL in Spain. ARL13B, CPLANE1, RPGRIP1L, OFD1, AHI1, TMEM216, CEP290, NPHP1, TMEM67, CC2D2A, INPP5E Specificity 10 % Genes 5 %
LEBER CONGENITAL AMAUROSIS. By Laboratorio de Genetica Clinica SL in Spain. LCA5, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1 Specificity 100 % Genes 75 %
SENIOR-LOKEN SYNDROME TYPE 6. By Laboratorio de Genetica Clinica SL in Spain. CEP290 Specificity 100 % Genes 5 %
BARDET-BIEDL SYNDROME (NGS). By Laboratorio de Genetica Clinica SL in Spain. SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6, TMEM67 Specificity 5 % Genes 5 %
Joubert with Oculorenal Defect Syndrome, Sequencing CEP290 Gene. By Reference Laboratory Genetics in Spain. CEP290 Specificity 100 % Genes 5 %
Leber Congenital Amaurosis Type 10 , Sequencing CEP290 Gene. By Reference Laboratory Genetics in Spain. CEP290 Specificity 100 % Genes 5 %
Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes. By Reference Laboratory Genetics in Spain. B9D2, RPGRIP1L, TCTN2, B9D1, TMEM216, MKS1, CEP290, NPHP3, TMEM67, CC2D2A Specificity 10 % Genes 5 %
Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes. By Reference Laboratory Genetics in Spain. SDCCAG8, WDPCP, BBIP1, LZTFL1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 6 % Genes 5 %
Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. ARL13B, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, OFD1, AHI1, TMEM216, CEP290, TMEM67, CC2D2A, INPP5E Specificity 8 % Genes 5 %
Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes. By Reference Laboratory Genetics in Spain. NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, SPATA7, AIPL1 Specificity 100 % Genes 85 %
Nephronophthisis , Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. GLIS2, NEK8, RPGRIP1L, SDCCAG8, AHI1, IQCB1, NPHP4, CEP290, NPHP1, NPHP3, INVS Specificity 19 % Genes 10 %
Senior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. TRAF3IP1, SDCCAG8, WDR19, IQCB1, NPHP4, CEP290, NPHP1 Specificity 29 % Genes 10 %
Syndromic Hirschsprung Disease: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1 , (...) View the complete list with 8 more genes Panel GTR000560245 complete gene list GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 4 % Genes 5 %
GUCY2D Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. GUCY2D Specificity 100 % Genes 5 %
GUCY2D Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. GUCY2D Specificity 100 % Genes 5 %
GUCY2D Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. GUCY2D Specificity 100 % Genes 5 %
Cone-Rod Dystrophy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, EYS, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9 , (...) View the complete list with 17 more genes Panel GTR000558965 complete gene list CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, EYS, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRB1, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, TULP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 17 % Genes 30 %
GUCY2D. By Institute for Human Genetics University Clinic Freiburg in Germany. GUCY2D Specificity 100 % Genes 5 %
GUCY2D Gene Sequencing. By GeneDx in United States. GUCY2D Specificity 100 % Genes 5 %
GUCY2D. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GUCY2D Specificity 100 % Genes 5 %
GUCY2D. Detection of the mutations in 837, 838 and 839 codons by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GUCY2D Specificity 100 % Genes 5 %
ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CRX, GUCY2D, ABCA4 Specificity 67 % Genes 10 %
Central areolar choroidal dystrophy (sequence analysis of GUCY2D gene). By CGC Genetics in Portugal. GUCY2D Specificity 100 % Genes 5 %
Cone-rod dystrophy (NGS panel of 36 genes). By CGC Genetics in Portugal. PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...) View the complete list with 16 more genes Panel GTR000523264 complete gene list PCYT1A, RGS9BP, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 14 % Genes 25 %
Leber congenital amaurosis 1 (sequence analysis of GUCY2D gene). By CGC Genetics in Portugal. GUCY2D Specificity 100 % Genes 5 %
Cone-Rod Dystrophy 6. By Exeter Molecular Genetics Laboratory in United Kingdom. GUCY2D Specificity 100 % Genes 5 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RGS9BP, DRAM2, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4 , (...) View the complete list with 15 more genes Panel GTR000509893 complete gene list RGS9BP, DRAM2, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 12 % Genes 20 %
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via GUCY2D Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GUCY2D Specificity 100 % Genes 5 %
GUCY2D-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. GUCY2D Specificity 100 % Genes 5 %
Leber congenital amaurosis type 1. By Centogene AG - the Rare Disease Company in Germany. GUCY2D Specificity 100 % Genes 5 %
Single gene testing GUCY2D. By CeGaT GmbH in Germany. GUCY2D Specificity 100 % Genes 5 %
Cone-Rod Dystrophy. By Asper Biogene Asper Biogene LLC in Estonia. CNNM4, PDE6H, RAX2, RAB28, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX , (...) View the complete list with 10 more genes Panel GTR000520060 complete gene list CNNM4, PDE6H, RAX2, RAB28, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 14 % Genes 20 %
Cone Rod Dystrophy panel. By Molecular Vision Laboratory in United States. CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C , (...) View the complete list with 13 more genes Panel GTR000523346 complete gene list CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, AIPL1 Specificity 13 % Genes 20 %
GUCY2D single gene sequencing. By Molecular Vision Laboratory in United States. GUCY2D Specificity 100 % Genes 5 %
Cone-rod dystrophy 6. By Praxis fuer Humangenetik Wien in Austria. GUCY2D Specificity 100 % Genes 5 %
Leber congenital amaurosis 1. By Praxis fuer Humangenetik Wien in Austria. GUCY2D Specificity 100 % Genes 5 %
GUCY2D. By Division Human Genetics Medical University Innsbruck in Austria. GUCY2D Specificity 100 % Genes 5 %
Cone-rod dystrophy 6. By MedGene in Slovakia. GUCY2D Specificity 100 % Genes 5 %
Leber congenital amaurosis 1. By MedGene in Slovakia. GUCY2D Specificity 100 % Genes 5 %
Leber congenital amaurosis 1: GUCY2D gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GUCY2D Specificity 100 % Genes 5 %
Cone rod dystrophy. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...) View the complete list with 10 more genes Panel GTR000531637 complete gene list RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 14 % Genes 20 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RBP4, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CLN3, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS , (...) View the complete list with 44 more genes Panel GTR000512407 complete gene list RBP4, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CLN3, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, C1QTNF5, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, ABCA4, RP1, SPATA7, BEST1, AIPL1, ZNF513 Specificity 18 % Genes 56 %
Cone-Rod Dystrophy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNNM4, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGRIP1, CNGB3 , (...) View the complete list with 4 more genes Panel GTR000509370 complete gene list CNNM4, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, SEMA4A, KCNV2, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGRIP1, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 17 % Genes 20 %
GUCY2D. By Fulgent Genetics Fulgent Genetics in United States. GUCY2D Specificity 100 % Genes 5 %
Cone Rod Dystrophy Panel. By Blueprint Genetics in Finland. ADAMTS18, RGS9BP, CEP78, ARHGEF18, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CLN3, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9 , (...) View the complete list with 22 more genes Panel GTR000552737 complete gene list ADAMTS18, RGS9BP, CEP78, ARHGEF18, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, RDH5, CLN3, CYP4V2, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, GNAT2, MERTK, C8orf37, CRB1, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 12 % Genes 25 %
Leber congenital amaurosis type 1. By Bioarray in Spain. GUCY2D Specificity 100 % Genes 5 %
CONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. GUCA1A, CRX, GUCY2D, AIPL1 Specificity 75 % Genes 15 %
Leber Congenital Amaurosis Type 1, Sequencing GUCY2D Gene. By Reference Laboratory Genetics in Spain. GUCY2D Specificity 100 % Genes 5 %
Cone Rod Distrophy Type 6 , Sequencing GUCY2D Gene. By Reference Laboratory Genetics in Spain. GUCY2D Specificity 100 % Genes 5 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes. By Reference Laboratory Genetics in Spain. RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX , (...) View the complete list with 10 more genes Panel GTR000559773 complete gene list RGS9BP, CNNM4, PDE6H, RAX2, UNC119, RDH5, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1, C8orf37, CRX, GUCY2D, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, CACNA1F, ABCA4, BEST1, AIPL1 Specificity 14 % Genes 20 %
Anophthalmia/microphthalmia. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark. ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2 , (...) View the complete list with 9 more genes Panel GTR000553010 complete gene list ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2, SIX6, BCOR, HCCS, STRA6, NHS, OTX2, MFRP, ABCB6, RAX Specificity 4 % Genes 5 %
GDF6 - Klippel Feil syndrome. By Centre of Molecular Diseases (CMM) CHUV in Switzerland. GDF6 Specificity 100 % Genes 5 %
GDF6. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GDF6 Specificity 100 % Genes 5 %
Klippel-Feil syndrome (sequence analysis of GDF6 gene). By CGC Genetics in Portugal. GDF6 Specificity 100 % Genes 5 %
Microphthalmia (NGS panel for 26 genes). By CGC Genetics in Portugal. SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, GDF6, MITF, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...) View the complete list with 6 more genes Panel GTR000525244 complete gene list SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, GDF6, MITF, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2, MFRP, ABCB6, RAX Specificity 4 % Genes 5 %
Klippel-Feil syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. MYO18B, RIPPLY2, MEOX1, GDF3, GDF6 Specificity 20 % Genes 5 %
Klippel-Feil syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. MYO18B, RIPPLY2, MEOX1, GDF3, GDF6 Specificity 20 % Genes 5 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. BMP7, SMOC1, ALDH1A3, TENM3, BMP4, CRYBA4, VSX2, FOXE3, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX Specificity 6 % Genes 5 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...) View the complete list with 238 more genes Panel GTR000558369 complete gene list TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1, IHH, BHLHA9, SMOC1, WNT3, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, INPPL1, SNX10, MMP13, EOGT, DDR2, TBX3, HDAC4, MEOX1, MATN3, TRAPPC2, GDF5, PTHLH, HPGD, RBPJ, DOCK6, LFNG, HES7, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, ENPP1, FAM111A, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, ERF, MEGF8, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, IRF6, CCNQ, WNT7A, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RIN2, WNT5A, CEP120, SRCAP, AFF4, TCTN3, SMARCAL1, MGP, EXT1, EXT2, GDF3, ALX1, FREM1, HOXA11, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, TTC21B, GORAB, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, SH3BP2, ASXL1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, LHX4, FGF10, RIPK4, ZMPSTE24, PITX1, PIEZO2, WDR19, BMPR1B, CDH3, IFT140, GDF6, TP63, GLI3, NFIX, ACVR1, ZNF469, CHST14, TNXB, FKBP14, FBN2, SKI, TGFBR2, TGFBR1, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, RAB23, NSDHL, EBP, PTH1R, CANT1, WDR35, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, LBR, FGD1, ANKRD11, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, PROK2, SHOX, FGFR1, TRPV4, SLC26A2, PEX7, ADAMTS2, PRKAR1A, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, SBDS, GPC3, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PLOD1, CREBBP, COL10A1, FGFR3, COL5A2, COL5A1, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AGPS, SQSTM1, PLOD2, CRTAP, P3H1, COG1, SLC39A13, SP7, SERPINF1, DHODH, FBN1, SHH, CLCN7, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 2 % Genes 15 %
Klippel-Feil Syndrome via the GDF6 Gene. By PreventionGenetics PreventionGenetics in United States. GDF6 Specificity 100 % Genes 5 %
Klippel-Feil syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. MYO18B, RIPPLY2, MEOX1, GDF3, GDF6 Specificity 20 % Genes 5 %
Klippel-Feil syndrome NGS panel. By Connective Tissue Gene Tests in United States. MYO18B, RIPPLY2, MEOX1, GDF3, GDF6 Specificity 20 % Genes 5 %
Klippel-Feil syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. MYO18B, RIPPLY2, MEOX1, GDF3, GDF6 Specificity 20 % Genes 5 %
GDF6 related Klippel-Feil Syndrome. By MGZ Medical Genetics Center in Germany. GDF6 Specificity 100 % Genes 5 %
Eye Diseases - panels. By MGZ Medical Genetics Center in Germany. OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...) View the complete list with 147 more genes Panel GTR000552433 complete gene list OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, ATOH7, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, ASPH, COL4A2, ADAMTS10, FAM126A, ADAMTSL4, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ERCC5, COL18A1, C12orf57, LRP2, FRAS1, FREM2, GRIP1, TBC1D20, EPG5, COL17A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RARB, RAB18, FTL, GJA1, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, CHST6, LRMDA, SLC24A5, GDF6, ZNF469, PRDM5, ZIC2, TGIF1, TFAP2A, MYH9, SLC4A11, COL11A2, COL11A1, COL9A2, ERCC2, COL9A3, COL9A1, ACTG1, ACTB, VPS13B, TREX1, TUBB2B, SIX3, RAB3GAP1, COL4A1, SIL1, SLC33A1, ADAMTS2, GLA, CHD7, GSN, PAX2, KRT3, COL5A2, COL5A1, FZD4, KIF21A, MYOC, HESX1, SOX2, CYP4V2, SIX6, CYP27A1, GALK1, CBS, BCOR, HCCS, FRMD7, STRA6, GJA3, PHOX2A, TMEM126A, FYCO1, MTPAP, FBN1, OPA3, CRYAB, MFN2, SHH, NHS, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, WFS1, ABCB6, OPA1, GPR143, TYR, TUBB3, TGFBI, ZEB1, PAX6, SLC45A2, VSX1, OCA2, COL3A1, COL2A1, LRP5, EYA1, TYRP1, RAX, FOXL2, C12orf65 Specificity 1 % Genes 5 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC). By MGZ Medical Genetics Center in Germany. SALL2, HMX1, SMOC1, MAB21L2, ERCC1, ERCC5, C12orf57, FRAS1, FREM2, GRIP1, TBC1D20, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RAB18 , (...) View the complete list with 28 more genes Panel GTR000521108 complete gene list SALL2, HMX1, SMOC1, MAB21L2, ERCC1, ERCC5, C12orf57, FRAS1, FREM2, GRIP1, TBC1D20, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RAB18, GJA1, RAB3GAP2, ERCC6, GDF6, ZIC2, TGIF1, TFAP2A, ERCC2, VPS13B, SIX3, RAB3GAP1, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, CYP1B1, OTX2, NDP, MFRP, OCRL, ABCB6, RAX, FOXL2 Specificity 3 % Genes 5 %
Klippel-Feil syndrome type 1, autosomal dominant. By Centogene AG - the Rare Disease Company in Germany. GDF6 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 17. By Centogene AG - the Rare Disease Company in Germany. GDF6 Specificity 100 % Genes 5 %
Microphthalmia, isolated type 4. By Centogene AG - the Rare Disease Company in Germany. GDF6 Specificity 100 % Genes 5 %
Microphthalmia, isolated type 6. By Centogene AG - the Rare Disease Company in Germany. GDF6 Specificity 100 % Genes 5 %
Klippel-feil syndrome panel. By Centogene AG - the Rare Disease Company in Germany. MYO18B, MEOX1, GDF3, GDF6 Specificity 25 % Genes 5 %
Microphthalmy Panel. By CeGaT GmbH in Germany. SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, RBP4, GDF6, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...) View the complete list with 6 more genes Panel GTR000522503 complete gene list SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, RBP4, GDF6, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2, MFRP, ABCB6, RAX Specificity 4 % Genes 5 %
Selected Genetic Syndromes with skeletal involvement Panel. By CeGaT GmbH in Germany. TBX3, MEOX1, FGF9, SF3B4, TBCE, FAM111A, POC1A, LARP7, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, CEP63, CUL7, CCNQ, TBX15 , (...) View the complete list with 22 more genes Panel GTR000527952 complete gene list TBX3, MEOX1, FGF9, SF3B4, TBCE, FAM111A, POC1A, LARP7, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, CEP63, CUL7, CCNQ, TBX15, ESCO2, MGP, GDF3, RBBP8, EP300, TBX5, SALL4, FGF10, DNA2, SH3PXD2B, GDF6, ATR, PCNT, CEP152, SALL1, CENPJ, CDKN1C, FGFR2, CREBBP, FGFR3, LMX1B, RECQL4 Specificity 3 % Genes 5 %
Klippel-Feil Syndrome. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. PAX1, MEOX1, GDF3, GDF6 Specificity 25 % Genes 5 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis. By Asper Biogene Asper Biogene LLC in Estonia. SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...) View the complete list with 15 more genes Panel GTR000553195 complete gene list SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1, SOX2, SIX6, BCOR, HCCS, STRA6, CYP1B1, OTX2, MFRP, PITX2, FOXC1, ABCB6, PAX6, VSX1, EYA1, RAX Specificity 3 % Genes 5 %
Developmental Eye Disease panel. By Molecular Vision Laboratory in United States. DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...) View the complete list with 39 more genes Panel GTR000521504 complete gene list DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, RAB18, RAB3GAP2, FOXE3, GDF6, NAA10, SOX3, FOXC2, ZEB2, CASK, SIX3, RAB3GAP1, COL4A1, LARGE1, ISPD, POMT1, POMT2, LAMB2, FKRP, FKTN, CHD7, PAX2, HESX1, SOX2, SIX6, BCOR, STRA6, CRX, SHH, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, ABCB6, PITX3, PAX6, RAX Specificity 4 % Genes 10 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL in Spain. UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...) View the complete list with 116 more genes Panel GTR000552865 complete gene list UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9, MSX1, FAM83H, GRHL3, DLX3, PLCB4, EDN1, MEOX1, AMELX, EDARADD, ADAMTSL4, WNT10A, EDAR, SF3B4, FOXE1, ALX3, TCF12, ERF, MEGF8, CDC45, LRP2, SPECC1L, IRF6, EDA, CDSN, NFKBIA, AXIN2, GDF3, BMP4, ALX1, VAX1, IFT122, IL11RA, DISP1, IFT43, MASP1, SATB2, GJA1, SH3BP2, GNAI3, EFTUD2, EFNB1, SALL4, ALX4, FGF10, WDR19, GDF6, KDM6A, TP63, MITF, GLI3, EZH2, SKI, TGFBR2, TGFBR1, GLI2, CDON, ZIC2, TGIF1, TWIST1, MSX2, RAB23, NAA10, PTH1R, WDR35, KAT6B, MED12, MID1, POLR1D, TFAP2A, SEMA3E, FGF3, SIX1, TCOF1, SOX10, SNAI2, PAX3, POLR1C, DSPP, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, ZEB2, FGD1, OFD1, ANKRD11, KMT2D, SIX3, FGF8, FGFR1, PTCH1, NSD1, NIPBL, SMC1A, SMC3, RAD21, FGFR2, RUNX2, PORCN, IKBKG, GJB6, CHD7, FGFR3, CTSK, BCOR, DHODH, SHH, OTX2, PITX2, FOXC1, PAX6, COL2A1, EYA1, RECQL4 Specificity 1 % Genes 5 %
Invitae Microphthalmia/Anophthalmia Disorders Panel. By Invitae in United States. PXDN, ALDH1A3, PRSS56, BMP4, VSX2, FOXE3, GDF6, PAX2, SOX2, BCOR, STRA6, SHH, OTX2, MFRP, RAX Specificity 7 % Genes 5 %
Klippel-Feil syndrome type 1: GDF6 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GDF6 Specificity 100 % Genes 5 %
GDF6. By Fulgent Genetics Fulgent Genetics in United States. GDF6 Specificity 100 % Genes 5 %
Isolated Klippel-Feil syndrome type 1. By Bioarray in Spain. GDF6 Specificity 100 % Genes 5 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. SMOC1, MAB21L2, PXDN, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, RARB, GDF6, NAA10, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2 , (...) View the complete list with 3 more genes Panel GTR000558218 complete gene list SMOC1, MAB21L2, PXDN, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, RARB, GDF6, NAA10, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2, MFRP, ABCB6, RAX Specificity 5 % Genes 5 %
KLIPPEL-FEIL SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. PAX1, MYO18B, MEOX1, GDF3, GDF6 Specificity 20 % Genes 5 %
Klippel-Feil Syndrome Type 1 , Sequencing GDF6 Gene. By Reference Laboratory Genetics in Spain. GDF6 Specificity 100 % Genes 5 %
Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes. By Reference Laboratory Genetics in Spain. MEOX1, GDF3, GDF6 Specificity 34 % Genes 5 %
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes. By Reference Laboratory Genetics in Spain. GDF3, BMP4, VSX2, VAX1, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, ABCB6, RAX Specificity 8 % Genes 5 %
LRAT Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. LRAT Specificity 100 % Genes 5 %
LRAT Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. LRAT Specificity 100 % Genes 5 %
LRAT Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. LRAT Specificity 100 % Genes 5 %
LRAT Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. LRAT Specificity 100 % Genes 5 %
LRAT. By Institute for Human Genetics University Clinic Freiburg in Germany. LRAT Specificity 100 % Genes 5 %
LRAT. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. LRAT Specificity 100 % Genes 5 %
Leber congenital amaurosis (sequence analysis of LRAT gene). By CGC Genetics in Portugal. LRAT Specificity 100 % Genes 5 %
Retinitis pigmentosa (NGS panel for 72 genes). By CGC Genetics in Portugal. RDH11, TUB, ECM1, KIAA1549, ADGRA3, ARL2BP, NEK2, PRPF4, RBP4, DHX38, GNPTG, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, CYP4V2 , (...) View the complete list with 52 more genes Panel GTR000525246 complete gene list RDH11, TUB, ECM1, KIAA1549, ADGRA3, ARL2BP, NEK2, PRPF4, RBP4, DHX38, GNPTG, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, CYP4V2, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, ARL6, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 13 % Genes 45 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes). By CGC Genetics in Portugal. RDH11, TUB, KIAA1549, ADGRA3, ARL2BP, NEK2, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS1, CYP4V2, RP2, EYS, CERKL, FLVCR1 , (...) View the complete list with 33 more genes Panel GTR000525283 complete gene list RDH11, TUB, KIAA1549, ADGRA3, ARL2BP, NEK2, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS1, CYP4V2, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 14 % Genes 35 %
Flecked Retina Disorder Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PLA2G5, VPS13B, EFEMP1, RDH5, LRAT, RS1, PROM1, RHO, RLBP1, PRPH2, ABCA4, ELOVL4, CHM Specificity 8 % Genes 5 %
Leber congenital amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis pigmentosa via the LRAT Gene. By PreventionGenetics PreventionGenetics in United States. LRAT Specificity 100 % Genes 5 %
LRAT-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. LRAT Specificity 100 % Genes 5 %
Retinitis pigmentosa juvenile. By Centogene AG - the Rare Disease Company in Germany. LRAT Specificity 100 % Genes 5 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel. By CeGaT GmbH in Germany. RDH11, TUB, KIAA1549, ADGRA3, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...) View the complete list with 42 more genes Panel GTR000522426 complete gene list RDH11, TUB, KIAA1549, ADGRA3, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, RBP4, DHX38, GNPTG, NMNAT1, RBP3, NR2E3, MAK, BBS2, BBS1, CYP4V2, HGSNAT, RP2, PRPF31, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, CLRN1, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 12 % Genes 35 %
Single gene testing LRAT. By CeGaT GmbH in Germany. LRAT Specificity 100 % Genes 5 %
Autosomal Recessive Retinitis Pigmentosa. By Asper Biogene Asper Biogene LLC in Estonia. ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CNGA3, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, TOPORS, SEMA4A, PRCD, RDH12, LRAT, GRK1 , (...) View the complete list with 36 more genes Panel GTR000507298 complete gene list ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, CNGA3, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, TOPORS, SEMA4A, PRCD, RDH12, LRAT, GRK1, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, CLRN1, ARL6, CNGB3, ABCA4, RP1, BEST1, AIPL1, ZNF513 Specificity 15 % Genes 40 %
RETINITIS PIGMENTOSA A.R.. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...) View the complete list with 21 more genes Panel GTR000531444 complete gene list GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 15 % Genes 30 %
RETINITIS PIGMENTOSA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...) View the complete list with 37 more genes Panel GTR000531585 complete gene list GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 15 % Genes 40 %
LRAT. By Fulgent Genetics Fulgent Genetics in United States. LRAT Specificity 100 % Genes 5 %
Leber congenital amaurosis type 14. By Bioarray in Spain. LRAT Specificity 100 % Genes 5 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes. By Reference Laboratory Genetics in Spain. GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR , (...) View the complete list with 21 more genes Panel GTR000559529 complete gene list GNPTG, RBP3, NR2E3, MAK, BBS1, RP2, EYS, CERKL, FLVCR1, PRCD, RDH12, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 15 % Genes 30 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes. By Reference Laboratory Genetics in Spain. GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD , (...) View the complete list with 37 more genes Panel GTR000559847 complete gene list GNPTG, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS1, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, USH2A, TTC8, ABCA4, RP1, SPATA7, BEST1, ZNF513 Specificity 15 % Genes 40 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. KIAA1549, ADGRA3, TRNT1, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, AGBL5, DHX38, IFT140, MVK, POMGNT1, RBP3, NR2E3, MAK, BBS2, BBS1 , (...) View the complete list with 35 more genes Panel GTR000560216 complete gene list KIAA1549, ADGRA3, TRNT1, IFT172, ARL2BP, NEK2, SLC7A14, KIZ, ZNF408, EMC1, AGBL5, DHX38, IFT140, MVK, POMGNT1, RBP3, NR2E3, MAK, BBS2, BBS1, CYP4V2, HGSNAT, EYS, CERKL, PRCD, LRAT, PCARE, IMPG2, NRL, CNGA1, FAM161A, RGR, PDE6A, DHDDS, MERTK, C8orf37, IDH3B, CRB1, PDE6B, PROM1, RHO, RLBP1, RPE65, SAG, TULP1, USH2A, TTC8, CLRN1, ARL6, ABCA4, RP1, SPATA7, NEUROD1, BEST1, ZNF513 Specificity 11 % Genes 30 %
IMPDH1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. IMPDH1 Specificity 100 % Genes 5 %
IMPDH1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. IMPDH1 Specificity 100 % Genes 5 %
IMPDH1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. IMPDH1 Specificity 100 % Genes 5 %
IMPDH1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. IMPDH1 Specificity 100 % Genes 5 %
IMPDH1. By Institute for Human Genetics University Clinic Freiburg in Germany. IMPDH1 Specificity 100 % Genes 5 %
IMPDH1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. IMPDH1 Specificity 100 % Genes 5 %
IMPDH1. Detection of the mutation p.Asp226Asn by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. IMPDH1 Specificity 100 % Genes 5 %
Retinitis pigmentosa 10 (sequence analysis of IMPDH1 gene). By CGC Genetics in Portugal. IMPDH1 Specificity 100 % Genes 5 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes). By CGC Genetics in Portugal. PRPF4, ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX , (...) View the complete list with 7 more genes Panel GTR000525285 complete gene list PRPF4, ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, RPGR, PRPH2, RP1, BEST1 Specificity 15 % Genes 20 %
Leber congenital amaurosis 11 (sequence analysis of IMPDH1 gene). By CGC Genetics in Portugal. IMPDH1 Specificity 100 % Genes 5 %
Leber congenital amaurosis 11 (sequence analysis of IMPDH1 gene). By CGC Genetics in Portugal. IMPDH1 Specificity 100 % Genes 5 %
Retinitis Pigmentosa via IMPDH1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. IMPDH1 Specificity 100 % Genes 5 %
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. EMC1, ROM1, PRPF3, NR2E3, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5, C1QTNF5, FSCN2, TOPORS, SEMA4A, SNRNP200, KLHL7, NRL, GUCA1B, PRPF6, CRB1 , (...) View the complete list with 9 more genes Panel GTR000531407 complete gene list EMC1, ROM1, PRPF3, NR2E3, PRPF8, PRPF31, CA4, PITPNM3, EYS, LCA5, C1QTNF5, FSCN2, TOPORS, SEMA4A, SNRNP200, KLHL7, NRL, GUCA1B, PRPF6, CRB1, CRX, IMPDH1, PDE6B, RHO, RPE65, PRPH2, RP1, PRKCG, BEST1 Specificity 18 % Genes 25 %
IMPDH1-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. IMPDH1 Specificity 100 % Genes 5 %
IMPDH1-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. IMPDH1 Specificity 100 % Genes 5 %
Retinitis pigmentosa type 10, autosomal dominant. By Centogene AG - the Rare Disease Company in Germany. IMPDH1 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 11. By Centogene AG - the Rare Disease Company in Germany. IMPDH1 Specificity 100 % Genes 5 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel. By CeGaT GmbH in Germany. PRPF4, ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR , (...) View the complete list with 10 more genes Panel GTR000522413 complete gene list PRPF4, ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, RPGR, PRPH2, RP1, BEST1 Specificity 14 % Genes 20 %
Autosomal Dominant Retinitis Pigmentosa. By Asper Biogene Asper Biogene LLC in Estonia. ROM1, PRPF3, NR2E3, RP9, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO , (...) View the complete list with 6 more genes Panel GTR000512493 complete gene list ROM1, PRPF3, NR2E3, RP9, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, PRPH2, RP1, PRKCG, BEST1, AIPL1 Specificity 20 % Genes 25 %
Retinitis pigmentosa. By VECMD VECMD in Mexico. BBIP1, PRPF8, PRPF31, CA4, CRB1, IMPDH1, RPE65, TULP1 Specificity 50 % Genes 20 %
RETINITIS PIGMENTOSA A.D. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...) View the complete list with 7 more genes Panel GTR000531491 complete gene list ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, RPGR, PRPH2, ABCA4, RP1, BEST1 Specificity 15 % Genes 20 %
IMPDH1. By Fulgent Genetics Fulgent Genetics in United States. IMPDH1 Specificity 100 % Genes 5 %
Leber congenital amaurosis. By Bioarray in Spain. IMPDH1 Specificity 100 % Genes 5 %
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. PRPF3, PRPF31, IMPDH1, RHO, PRPH2, RP1 Specificity 17 % Genes 5 %
Retinitis Pigmentosa, Sequencing IMPDH1 Gene. By Reference Laboratory Genetics in Spain. IMPDH1 Specificity 100 % Genes 5 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes. By Reference Laboratory Genetics in Spain. ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1 , (...) View the complete list with 7 more genes Panel GTR000559653 complete gene list ROM1, PRPF3, NR2E3, RP9, RP2, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, RGR, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, RPGR, PRPH2, ABCA4, RP1, BEST1 Specificity 15 % Genes 20 %
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, GUCA1B, PRPF6, CRX , (...) View the complete list with 6 more genes Panel GTR000560215 complete gene list ARL3, SPP2, ROM1, PRPF3, NR2E3, RP9, HK1, PRPF8, PRPF31, CA4, FSCN2, TOPORS, SEMA4A, SNRNP200, RDH12, KLHL7, NRL, GUCA1B, PRPF6, CRX, IMPDH1, RHO, RPE65, PRPH2, RP1, BEST1 Specificity 16 % Genes 20 %
NMNAT1 Familial Mutation/Variant Analysis. By Baylor Miraca Genetics Laboratories in United States. NMNAT1 Specificity 100 % Genes 5 %
NMNAT1 Prenatal Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. NMNAT1 Specificity 100 % Genes 5 %
NMNAT1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. NMNAT1 Specificity 100 % Genes 5 %
NMNAT1. By Institute for Human Genetics University Clinic Freiburg in Germany. NMNAT1 Specificity 100 % Genes 5 %
Leber congenital amaurosis 9 (LCA9, sequence analysis of NMNAT1 gene). By CGC Genetics in Portugal. NMNAT1 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 9. By Centogene AG - the Rare Disease Company in Germany. NMNAT1 Specificity 100 % Genes 5 %
NMNAT1. By Fulgent Genetics Fulgent Genetics in United States. NMNAT1 Specificity 100 % Genes 5 %
LCA5 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. LCA5 Specificity 100 % Genes 5 %
LCA5 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. LCA5 Specificity 100 % Genes 5 %
LCA5 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. LCA5 Specificity 100 % Genes 5 %
LCA5 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. LCA5 Specificity 100 % Genes 5 %
LCA5. By Institute for Human Genetics University Clinic Freiburg in Germany. LCA5 Specificity 100 % Genes 5 %
Leber congenital amaurosis 5 (LCA5, sequence analysis of LCA5 gene). By CGC Genetics in Portugal. LCA5 Specificity 100 % Genes 5 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes). By CGC Genetics in Portugal. LCA5, CRB1, CRX, RPE65, AIPL1 Specificity 100 % Genes 25 %
Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes). By CGC Genetics in Portugal. LCA5, CRB1, CRX, RPE65, AIPL1 Specificity 100 % Genes 25 %
LCA5-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. LCA5 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 5. By Centogene AG - the Rare Disease Company in Germany. LCA5 Specificity 100 % Genes 5 %
Ashkenazi Jewish diseases. By Asper Biogene Asper Biogene LLC in Estonia. F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...) View the complete list with 17 more genes Panel GTR000507864 complete gene list F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA, MAK, BBS2, HEXA, LCA5, G6PC, FAM161A, DHDDS, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, AGL, MSH6, MSH2, BRCA2, BRCA1 Specificity 3 % Genes 5 %
Ashkenazi Jewish Panel. By Molecular Vision Laboratory in United States. MAK, LCA5, CACNA2D4, TRPM1, FAM161A, DHDDS, PCDH15, CLRN1 Specificity 13 % Genes 5 %
LCA5. By Fulgent Genetics Fulgent Genetics in United States. LCA5 Specificity 100 % Genes 5 %
CRX Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CRX Specificity 100 % Genes 5 %
CRX Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CRX Specificity 100 % Genes 5 %
CRX Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. CRX Specificity 100 % Genes 5 %
CRX Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. CRX Specificity 100 % Genes 5 %
CRX. By Institute for Human Genetics University Clinic Freiburg in Germany. CRX Specificity 100 % Genes 5 %
GUCA1A Gene Sequencing. By GeneDx in United States. CRX Specificity 100 % Genes 5 %
CRX Gene Sequencing. By GeneDx in United States. CRX Specificity 100 % Genes 5 %
GUCY2D Select Exons Sequencing. By GeneDx in United States. CRX Specificity 100 % Genes 5 %
CRX. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CRX Specificity 100 % Genes 5 %
Leber congenital amaurosis 7 (sequence analysis of CRX gene). By CGC Genetics in Portugal. CRX Specificity 100 % Genes 5 %
Leber Congenital Amaurosis via the CRX Gene. By PreventionGenetics PreventionGenetics in United States. CRX Specificity 100 % Genes 5 %
CRX-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. CRX Specificity 100 % Genes 5 %
Leber congenital amaurosis type 7. By Centogene AG - the Rare Disease Company in Germany. CRX Specificity 100 % Genes 5 %
Cone-rod dystrophy type 2. By Centogene AG - the Rare Disease Company in Germany. CRX Specificity 100 % Genes 5 %
Stargardt Disease and Macular Dystrophies Panel. By CeGaT GmbH in Germany. CDH3, IMPG1, DRAM2, CTNNA1, TTLL5, MFSD8, TIMP3, CLN3, C1QTNF5, FSCN2, RDH12, IMPG2, RP1L1, CRB1, CRX, PROM1, RPGR, PRPH2, CNGB3, ABCA4 , (...) View the complete list with 2 more genes Panel GTR000522487 complete gene list CDH3, IMPG1, DRAM2, CTNNA1, TTLL5, MFSD8, TIMP3, CLN3, C1QTNF5, FSCN2, RDH12, IMPG2, RP1L1, CRB1, CRX, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 14 % Genes 15 %
Single gene testing CRX. By CeGaT GmbH in Germany. CRX Specificity 100 % Genes 5 %
CRX single gene sequencing. By Molecular Vision Laboratory in United States. CRX Specificity 100 % Genes 5 %
Cone-Rod dystrophy type 2 (Leber congenital amaurosis): CRX gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CRX Specificity 100 % Genes 5 %
CRX. By Fulgent Genetics Fulgent Genetics in United States. CRX Specificity 100 % Genes 5 %
Macular Dystrophy Panel. By Blueprint Genetics in Finland. PRDM13, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, RDH5, TIMP3, C1QTNF5, CERKL, RDH12, IMPG2, RP1L1, RS1, CRB1, CRX, PROM1, RLBP1 , (...) View the complete list with 6 more genes Panel GTR000552824 complete gene list PRDM13, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, RDH5, TIMP3, C1QTNF5, CERKL, RDH12, IMPG2, RP1L1, RS1, CRB1, CRX, PROM1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 12 % Genes 15 %
Cone-Rod Dystrophy Type 2 , Sequencing CRX Gene. By Reference Laboratory Genetics in Spain. CRX Specificity 100 % Genes 5 %
KCNJ13 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. KCNJ13 Specificity 100 % Genes 5 %
KCNJ13 Familial Mutation/Variant Analysis. By Baylor Miraca Genetics Laboratories in United States. KCNJ13 Specificity 100 % Genes 5 %
KCNJ13 Prenatal Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. KCNJ13 Specificity 100 % Genes 5 %
KCNJ13 Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. KCNJ13 Specificity 100 % Genes 5 %
KCNJ13 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. KCNJ13 Specificity 100 % Genes 5 %
Leber congenital amaurosis 16 (LCA16, sequence analysis of KCNJ13 gene). By CGC Genetics in Portugal. KCNJ13 Specificity 100 % Genes 5 %
Vitreoretinopathy Comprehensive panel. By Connective Tissue Gene Tests in United States. CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1 Specificity 6 % Genes 5 %
Vitreoretinopathy Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1 Specificity 6 % Genes 5 %
Vitreoretinopathy NGS panel. By Connective Tissue Gene Tests in United States. CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1 Specificity 6 % Genes 5 %
Leber congenital amaurosis type 16. By Centogene AG - the Rare Disease Company in Germany. KCNJ13 Specificity 100 % Genes 5 %
Vitreoretinopathy. By Asper Biogene Asper Biogene LLC in Estonia. NDP-AS1, CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, COL2A1, LRP5, BEST1 Specificity 6 % Genes 5 %
Vitreoretinopathy panel. By Molecular Vision Laboratory in United States. CAPN5, ATOH7, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A1, COL4A5, COL4A4, COL4A3, FZD4, TSPAN12, KCNJ13, NDP, COL2A1, LRP5 Specificity 6 % Genes 5 %
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCAN, COL11A1, COL9A1, FZD4, TSPAN12, KCNJ13, NDP, COL2A1, LRP5 Specificity 12 % Genes 5 %
KCNJ13. By Fulgent Genetics Fulgent Genetics in United States. KCNJ13 Specificity 100 % Genes 5 %
Vitreoretinopathy Panel. By Blueprint Genetics in Finland. CAPN5, P3H2, ATOH7, VCAN, COL18A1, CTC1, KIF11, ZNF408, CTNNB1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP , (...) View the complete list with 3 more genes Panel GTR000552765 complete gene list CAPN5, P3H2, ATOH7, VCAN, COL18A1, CTC1, KIF11, ZNF408, CTNNB1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1 Specificity 5 % Genes 5 %
RPE65 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPE65 Specificity 100 % Genes 5 %
RPE65 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RPE65 Specificity 100 % Genes 5 %
RPE65 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. RPE65 Specificity 100 % Genes 5 %
RPE65 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPE65 Specificity 100 % Genes 5 %
Leber congenital amaurosis 2; RPE65. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark. RPE65 Specificity 100 % Genes 5 %
RPE65. By Institute for Human Genetics University Clinic Freiburg in Germany. RPE65 Specificity 100 % Genes 5 %
RPE65 Gene Sequencing. By GeneDx in United States. RPE65 Specificity 100 % Genes 5 %
RPE65 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. RPE65 Specificity 100 % Genes 5 %
RPE65. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RPE65 Specificity 100 % Genes 5 %
RPE65. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RPE65 Specificity 100 % Genes 5 %
Leber congenital amaurosis (sequence analysis of RPE65 gene). By CGC Genetics in Portugal. RPE65 Specificity 100 % Genes 5 %
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, SLC24A1, PDE6B, RHO, RPE65, SAG, CACNA1F, CHM Specificity 7 % Genes 5 %
RPE65-Associated Disorders via RPE65 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RPE65 Specificity 100 % Genes 5 %
RPE65-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. RPE65 Specificity 100 % Genes 5 %
RPE65-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. RPE65 Specificity 100 % Genes 5 %
Retinitis pigmentosa type 20, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. RPE65 Specificity 100 % Genes 5 %
Single gene testing RPE65. By CeGaT GmbH in Germany. RPE65 Specificity 100 % Genes 5 %
RPE65, sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. RPE65 Specificity 100 % Genes 5 %
Leber congenital amaurosis 2: RPE65 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RPE65 Specificity 100 % Genes 5 %
Retinitis pigmentosa: RPE65 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RPE65 Specificity 100 % Genes 5 %
RPE65. By Fulgent Genetics Fulgent Genetics in United States. RPE65 Specificity 100 % Genes 5 %
Congenital Stationary Night Blindness Panel. By Blueprint Genetics in Finland. GPR179, LRIT3, RDH5, CYP4V2, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, GRK1, PDE6B, RHO, RLBP1, RPE65, SAG, CACNA1F Specificity 6 % Genes 5 %
Retinitis pigmentosa autosomal recessive. By Bioarray in Spain. RPE65 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 2. By Bioarray in Spain. RPE65 Specificity 100 % Genes 5 %
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE). By Laboratorio de Genetica Clinica SL in Spain. EYS, CERKL, PDE6A, CRB1, PDE6B, RPE65, SAG, USH2A, ABCA4 Specificity 23 % Genes 10 %
Leber Congenital Amaurosis Type 2, Sequencing RPE65 Gene. By Reference Laboratory Genetics in Spain. RPE65 Specificity 100 % Genes 5 %
Retinitis Pigmentosa, Sequencing RPE65 Gene. By Reference Laboratory Genetics in Spain. RPE65 Specificity 100 % Genes 5 %
RPGRIP1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGRIP1 Specificity 100 % Genes 5 %
RPGRIP1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGRIP1 Specificity 100 % Genes 5 %
RPGRIP1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGRIP1 Specificity 100 % Genes 5 %
RPGRIP1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. RPGRIP1 Specificity 100 % Genes 5 %
RPGRIP1. By Institute for Human Genetics University Clinic Freiburg in Germany. RPGRIP1 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 6 (sequence analysis of RPGRIP1 gene). By CGC Genetics in Portugal. RPGRIP1 Specificity 100 % Genes 5 %
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene. By PreventionGenetics PreventionGenetics in United States. RPGRIP1 Specificity 100 % Genes 5 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CDH3, RBP3, EFEMP1, TIMP3, C1QTNF5, FSCN2, CERKL, RDH12, IMPG2, RP1L1, RS1, GUCA1B, CRB1, PROM1, RLBP1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4 , (...) View the complete list with 2 more genes Panel GTR000531411 complete gene list CDH3, RBP3, EFEMP1, TIMP3, C1QTNF5, FSCN2, CERKL, RDH12, IMPG2, RP1L1, RS1, GUCA1B, CRB1, PROM1, RLBP1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 14 % Genes 15 %
RPGRIP1-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. RPGRIP1 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 6. By Centogene AG - the Rare Disease Company in Germany. RPGRIP1 Specificity 100 % Genes 5 %
Cone-rod dystrophy type 13. By Centogene AG - the Rare Disease Company in Germany. RPGRIP1 Specificity 100 % Genes 5 %
Glaucoma. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. OLFM2, LOXL1, NTF4, OPTC, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6 Specificity 6 % Genes 5 %
Glaucoma (Advance). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC , (...) View the complete list with 14 more genes Panel GTR000531647 complete gene list OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RPGRIP1, RRM2B, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PITX3, PAX6, BEST1, TTR, MTHFR Specificity 3 % Genes 5 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RBP4, CDH3, EFEMP1, TIMP3, FSCN2, RDH12, GUCA1B, PROM1, RPGR, RPGRIP1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 14 % Genes 10 %
RPGRIP1. By Fulgent Genetics Fulgent Genetics in United States. RPGRIP1 Specificity 100 % Genes 5 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes. By Reference Laboratory Genetics in Spain. LOXL1, NTF4, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6 Specificity 6 % Genes 5 %
CRB1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. CRB1 Specificity 100 % Genes 5 %
CRB1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CRB1 Specificity 100 % Genes 5 %
CRB1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CRB1 Specificity 100 % Genes 5 %
CRB1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. CRB1 Specificity 100 % Genes 5 %
CRB1. By Institute for Human Genetics University Clinic Freiburg in Germany. CRB1 Specificity 100 % Genes 5 %
CRB1 Gene Sequencing. By GeneDx in United States. CRB1 Specificity 100 % Genes 5 %
CRB1 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CRB1 Specificity 100 % Genes 5 %
CRB1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CRB1 Specificity 100 % Genes 5 %
Retinitis pigmentosa 12 (sequence analysis of CRB1 gene). By CGC Genetics in Portugal. CRB1 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 8 (sequence analysis of CRB1 gene). By CGC Genetics in Portugal. CRB1 Specificity 100 % Genes 5 %
Leber Congenital Amaurosis and Retinitis Pigmentosa via CRB1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CRB1 Specificity 100 % Genes 5 %
CRB1-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. CRB1 Specificity 100 % Genes 5 %
CRB1-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. CRB1 Specificity 100 % Genes 5 %
Retinitis pigmentosa type 12, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. CRB1 Specificity 100 % Genes 5 %
Single gene testing CRB1. By CeGaT GmbH in Germany. CRB1 Specificity 100 % Genes 5 %
CRB1. By Division Human Genetics Medical University Innsbruck in Austria. CRB1 Specificity 100 % Genes 5 %
CRB1. By Fulgent Genetics Fulgent Genetics in United States. CRB1 Specificity 100 % Genes 5 %
Leber congenital amaurosis. By Bioarray in Spain. CRB1 Specificity 100 % Genes 5 %
Retinitis Pigmentosa, Sequencing CRB1 Gene. By Reference Laboratory Genetics in Spain. CRB1 Specificity 100 % Genes 5 %
IQCB1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. IQCB1 Specificity 100 % Genes 5 %
IQCB1 Familial Mutation/Variant Analysis. By Baylor Miraca Genetics Laboratories in United States. IQCB1 Specificity 100 % Genes 5 %
IQCB1 Prenatal Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. IQCB1 Specificity 100 % Genes 5 %
IQCB1 Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. IQCB1 Specificity 100 % Genes 5 %
IQCB1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. IQCB1 Specificity 100 % Genes 5 %
Senior-Loken syndrome 5 (sequence analysis of IQCB1 gene). By CGC Genetics in Portugal. IQCB1 Specificity 100 % Genes 5 %
Test for Senior-Loken Syndrome 5. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. IQCB1 Specificity 100 % Genes 5 %
Test for Senior-Loken Syndrome 5. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. IQCB1 Specificity 100 % Genes 5 %
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene. By PreventionGenetics PreventionGenetics in United States. IQCB1 Specificity 100 % Genes 5 %
Senior-Loken syndrome type 5. By Centogene AG - the Rare Disease Company in Germany. IQCB1 Specificity 100 % Genes 5 %
IQCB1. By Fulgent Genetics Fulgent Genetics in United States. IQCB1 Specificity 100 % Genes 5 %
SENIOR-LOKEN SYNDROME TYPE 5. By Laboratorio de Genetica Clinica SL in Spain. IQCB1 Specificity 100 % Genes 5 %
RDH12 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. RDH12 Specificity 100 % Genes 5 %
RDH12 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RDH12 Specificity 100 % Genes 5 %
RDH12 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RDH12 Specificity 100 % Genes 5 %
RDH12 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RDH12 Specificity 100 % Genes 5 %
RDH12. By Institute for Human Genetics University Clinic Freiburg in Germany. RDH12 Specificity 100 % Genes 5 %
RDH12. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RDH12 Specificity 100 % Genes 5 %
Stargardt disease and macular distrophy (NGS panel for 14 genes). By CGC Genetics in Portugal. CDH3, IMPG1, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 8 % Genes 5 %
Leber congenital amaurosis 13 (sequence analysis of RDH12 gene). By CGC Genetics in Portugal. RDH12 Specificity 100 % Genes 5 %
Leber Congenital Amaurosis 13 (LCA13), Retinitis Pigmentosa 53 (RP53) and Early Onset Cone-Rod Dystrophy (CORD) via the RDH12 Gene. By PreventionGenetics PreventionGenetics in United States. RDH12 Specificity 100 % Genes 5 %
RDH12-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. RDH12 Specificity 100 % Genes 5 %
RDH12-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. RDH12 Specificity 100 % Genes 5 %
Retinitis pigmentosa type 53, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. RDH12 Specificity 100 % Genes 5 %
RDH12. By Division Human Genetics Medical University Innsbruck in Austria. RDH12 Specificity 100 % Genes 5 %
STARGARDT SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 8 % Genes 5 %
RDH12. By Fulgent Genetics Fulgent Genetics in United States. RDH12 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 13. By Bioarray in Spain. RDH12 Specificity 100 % Genes 5 %
Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes. By Reference Laboratory Genetics in Spain. CDH3, TIMP3, C1QTNF5, FSCN2, RDH12, RP1L1, PROM1, PRPH2, CNGB3, ABCA4, ELOVL4, BEST1 Specificity 9 % Genes 5 %
Lipodystrophies (NGS panel for 17 genes). By CGC Genetics in Portugal. PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG Specificity 6 % Genes 5 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes). By CGC Genetics in Portugal. BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...) View the complete list with 5 more genes Panel GTR000557196 complete gene list BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, BLM, CAVIN1, FBN1, PPARG Specificity 4 % Genes 5 %
Lipodystrophies (NGS panel for 17 genes). By CGC Genetics in Portugal. PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG Specificity 6 % Genes 5 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes). By CGC Genetics in Portugal. BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...) View the complete list with 5 more genes Panel GTR000557616 complete gene list BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, BLM, CAVIN1, FBN1, PPARG Specificity 4 % Genes 5 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...) View the complete list with 34 more genes Panel GTR000559319 complete gene list RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, LIFR, FLNB, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, RNU4ATAC, NEK1, SMARCAL1, EIF2AK3, B3GALT6, BGN, B3GAT3, CFAP410, DYM, COMP, PTH1R, CANT1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, HSPG2, TRPV4, SLC26A2, SBDS, RUNX2, RMRP, IDUA, COL10A1, FGFR3, COL2A1 Specificity 2 % Genes 5 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel. By Connective Tissue Gene Tests in United States. RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...) View the complete list with 34 more genes Panel GTR000559381 complete gene list RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, LIFR, FLNB, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, RNU4ATAC, NEK1, SMARCAL1, EIF2AK3, B3GALT6, BGN, B3GAT3, CFAP410, DYM, COMP, PTH1R, CANT1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, HSPG2, TRPV4, SLC26A2, SBDS, RUNX2, RMRP, IDUA, COL10A1, FGFR3, COL2A1 Specificity 2 % Genes 5 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel. By Connective Tissue Gene Tests in United States. RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...) View the complete list with 34 more genes Panel GTR000559385 complete gene list RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, LIFR, FLNB, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, RNU4ATAC, NEK1, SMARCAL1, EIF2AK3, B3GALT6, BGN, B3GAT3, CFAP410, DYM, COMP, PTH1R, CANT1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, HSPG2, TRPV4, SLC26A2, SBDS, RUNX2, RMRP, IDUA, COL10A1, FGFR3, COL2A1 Specificity 2 % Genes 5 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel. By CeGaT GmbH in Germany. POP1, KIF22, PAPSS2, XYLT1, PCYT1A, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, DYM, CANT1 , (...) View the complete list with 7 more genes Panel GTR000527951 complete gene list POP1, KIF22, PAPSS2, XYLT1, PCYT1A, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, DYM, CANT1, COL11A2, COL11A1, HSPG2, TRPV4, RMRP, SLC39A13, COL2A1 Specificity 4 % Genes 5 %
PCYT1A. By Fulgent Genetics Fulgent Genetics in United States. PCYT1A Specificity 100 % Genes 5 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel. By Blueprint Genetics in Finland. LONP1, KIF22, ACAN, PAPSS2, PCYT1A, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, BGN, DYM , (...) View the complete list with 8 more genes Panel GTR000552714 complete gene list LONP1, KIF22, ACAN, PAPSS2, PCYT1A, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, BGN, DYM, CANT1, COL11A2, COL11A1, HSPG2, TRPV4, RMRP, SLC39A13, COL2A1 Specificity 4 % Genes 5 %
Comprehensive Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...) View the complete list with 226 more genes Panel GTR000558787 complete gene list CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, TBX3, MATN3, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, WNT5A, CSPP1, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, AKT1, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, GJA1, GNAS, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, EBP, FANCB, PTH1R, CANT1, WDR35, KAT6B, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, SETBP1, ANKRD11, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, RNU4ATAC, NF1, LMNA, TRPV4, SLC26A2, PEX7, PRKAR1A, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PTPN11, IDS, CREBBP, COL10A1, FANCC, FGFR3, ARSB, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 10 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, IGF1R, TBX3, MATN3, IGF1, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, CEP63, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, CCNQ, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RTTN, WNT5A, CSPP1, SRCAP, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, STAT5B, EXT1, EXT2, AKT1, INSR, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, RBBP8, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, GJA1, GNAS, TRIM37, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, LHX3, LHX4, TBX19, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, SOX3, EBP, FANCB, MBTPS2, PTH1R, CANT1, WDR35, KAT6B, PEX19, PEX14, LZTR1, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, ACTG1, ACTB, LBR, SETBP1, FGD1, ANKRD11, FLNA, CENPJ, HSPG2, ANO5, FGF23, PHEX, GHR, GH1, POU1F1, CASR, SHOX, FGFR1, GHRHR, NF1, LMNA, TRPV4, SLC26A2, PEX7, PROP1, PRKAR1A, ACP5, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, FGFR2, VDR, SOS1, SHOC2, RUNX2, RMRP, PTPN11, NRAS, MAP2K1, KRAS, IDS, HRAS, DHCR7, CREBBP, COL10A1, BRAF, FANCC, FGFR3, ARSB, COL5A2, COL5A1, LMX1B, HESX1, SOX2, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, RAF1, OTX2, PITX2, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, BCS1L, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 10 %
RD3 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. RD3 Specificity 100 % Genes 5 %
RD3 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RD3 Specificity 100 % Genes 5 %
RD3 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RD3 Specificity 100 % Genes 5 %
RD3 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RD3 Specificity 100 % Genes 5 %
Leber congenital amaurosis 12 (LCA12, sequence analysis of RD3 gene). By CGC Genetics in Portugal. RD3 Specificity 100 % Genes 5 %
RD3-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. RD3 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 12. By Centogene AG - the Rare Disease Company in Germany. RD3 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 12. By Centogene AG - the Rare Disease Company in Germany. RD3 Specificity 100 % Genes 5 %
RD3. By Fulgent Genetics Fulgent Genetics in United States. RD3 Specificity 100 % Genes 5 %
SPATA7 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. SPATA7 Specificity 100 % Genes 5 %
SPATA7 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. SPATA7 Specificity 100 % Genes 5 %
SPATA7 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. SPATA7 Specificity 100 % Genes 5 %
SPATA7 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. SPATA7 Specificity 100 % Genes 5 %
SPATA7. By Institute for Human Genetics University Clinic Freiburg in Germany. SPATA7 Specificity 100 % Genes 5 %
Leber congenital amaurosis 3 (LCA3, sequence analysis of SPATA7 gene). By CGC Genetics in Portugal. SPATA7 Specificity 100 % Genes 5 %
SPATA7-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. SPATA7 Specificity 100 % Genes 5 %
Leber congenital amaurosis type 3. By Centogene AG - the Rare Disease Company in Germany. SPATA7 Specificity 100 % Genes 5 %
Retinitis pigmentosa, juvenile, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. SPATA7 Specificity 100 % Genes 5 %
SPATA7. By Fulgent Genetics Fulgent Genetics in United States. SPATA7 Specificity 100 % Genes 5 %
AIPL1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. AIPL1 Specificity 100 % Genes 5 %
AIPL1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. AIPL1 Specificity 100 % Genes 5 %
AIPL1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. AIPL1 Specificity 100 % Genes 5 %
AIPL1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. AIPL1 Specificity 100 % Genes 5 %
AIPL1. By Institute for Human Genetics University Clinic Freiburg in Germany. AIPL1 Specificity 100 % Genes 5 %
Cone-rod dystrophy (sequence analysis of AIPL1 gene). By CGC Genetics in Portugal. AIPL1 Specificity 100 % Genes 5 %
Retinitis pigmentosa, juvenile (sequence analysis of AIPL1 gene). By CGC Genetics in Portugal. AIPL1 Specificity 100 % Genes 5 %
Retinitis pigmentosa, juvenile (sequence analysis of AIPL1 gene). By CGC Genetics in Portugal. AIPL1 Specificity 100 % Genes 5 %
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AIPL1 Specificity 100 % Genes 5 %
AIPL1-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. AIPL1 Specificity 100 % Genes 5 %
Cone-rod dystrophy. By Centogene AG - the Rare Disease Company in Germany. AIPL1 Specificity 100 % Genes 5 %
Single gene testing AIPL1. By CeGaT GmbH in Germany. AIPL1 Specificity 100 % Genes 5 %
AIPL1 single-gene sequencing . By Molecular Vision Laboratory in United States. AIPL1 Specificity 100 % Genes 5 %
AIPL1. By Fulgent Genetics Fulgent Genetics in United States. AIPL1 Specificity 100 % Genes 5 %
TULP1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. TULP1 Specificity 100 % Genes 5 %
TULP1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. TULP1 Specificity 100 % Genes 5 %
TULP1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. TULP1 Specificity 100 % Genes 5 %
TULP1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. TULP1 Specificity 100 % Genes 5 %
TULP1. By Institute for Human Genetics University Clinic Freiburg in Germany. TULP1 Specificity 100 % Genes 5 %
Retinitis pigmentosa 14, AR (sequence analysis of TULP1 gene). By CGC Genetics in Portugal. TULP1 Specificity 100 % Genes 5 %
Retinitis pigmentosa 14, AR (deletion/duplication analysis on TULP1 gene). By CGC Genetics in Portugal. TULP1 Specificity 100 % Genes 5 %
Retinitis pigmentosa 14, AR (deletion/duplication analysis on TULP1 gene). By CGC Genetics in Portugal. TULP1 Specificity 100 % Genes 5 %
TULP1-Associated Disorders via TULP1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TULP1 Specificity 100 % Genes 5 %
TULP1-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. TULP1 Specificity 100 % Genes 5 %
Retinitis pigmentosa type 14, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. TULP1 Specificity 100 % Genes 5 %
Single gene testing TUPL1. By CeGaT GmbH in Germany. TULP1 Specificity 100 % Genes 5 %
TULP1. By Fulgent Genetics Fulgent Genetics in United States. TULP1 Specificity 100 % Genes 5 %
IFT140. By Institute for Human Genetics University Clinic Freiburg in Germany. IFT140 Specificity 100 % Genes 5 %
Short-rib thoracic dysplasia 9 with or without polydactyly (sequence analysis of IFT140 gene). By CGC Genetics in Portugal. IFT140 Specificity 100 % Genes 5 %
Craniosynostosis (NGS panel for 30 genes). By CGC Genetics in Portugal. TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2 , (...) View the complete list with 10 more genes Panel GTR000523916 complete gene list TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, ALPL, RECQL4 Specificity 4 % Genes 5 %
Ellis Van Creveld syndrome (NGS panel for 12 genes). By CGC Genetics in Portugal. WDR34, WDR60, NEK1, DYNC2H1, IFT172, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, WDR35 Specificity 9 % Genes 5 %
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes). By CGC Genetics in Portugal. WDR34, WDR60, NEK1, DYNC2H1, CSPP1, CEP120, IFT172, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, WDR35 Specificity 7 % Genes 5 %
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PAPSS2, WDR34, WDR60, NEK1, DYNC2H1, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, SOX9, WDR35, SLC26A2, FGFR2, FGFR3 Specificity 6 % Genes 5 %
Skeletal dysplasia ciliopathy Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...) View the complete list with 4 more genes Panel GTR000559359 complete gene list DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, CFAP410, WDR35, KIAA0586 Specificity 5 % Genes 5 %
Skeletal dysplasia ciliopathy NGS panel. By Connective Tissue Gene Tests in United States. DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...) View the complete list with 4 more genes Panel GTR000559400 complete gene list DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, CFAP410, WDR35, KIAA0586 Specificity 5 % Genes 5 %
Skeletal dysplasia ciliopathy Comprehensive panel. By Connective Tissue Gene Tests in United States. DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...) View the complete list with 4 more genes Panel GTR000559433 complete gene list DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, CFAP410, WDR35, KIAA0586 Specificity 5 % Genes 5 %
Short-rib dysplasia Panel. By CeGaT GmbH in Germany. WDR34, WDR60, NEK1, DYNC2H1, IFT172, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, WDR35 Specificity 8 % Genes 5 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel. By CeGaT GmbH in Germany. GSC, IHH, NPR2, DDR2, GDF5, TRPS1, GPC6, ZSWIM6, PDE4D, ROR2, WNT5A, IFT122, IFT43, IFT140, ADAMTSL2, WDR35, PRKAR1A, FGFR3, FBN1 Specificity 6 % Genes 5 %
Skeletal Ciliopathies. By Asper Biogene Asper Biogene LLC in Estonia. DYNC2LI1, TCTEX1D2, IFT52, WDR34, WDR60, NEK1, DYNC2H1, CSPP1, CEP120, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, COMP , (...) View the complete list with 3 more genes Panel GTR000553542 complete gene list DYNC2LI1, TCTEX1D2, IFT52, WDR34, WDR60, NEK1, DYNC2H1, CSPP1, CEP120, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, COMP, WDR35, KIAA0586, FGFR3 Specificity 5 % Genes 5 %
Invitae Skeletal Ciliopathies Panel. By Invitae in United States. WDR34, WDR60, NEK1, DYNC2H1, CSPP1, CEP120, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, WDR35, KIAA0586 Specificity 6 % Genes 5 %
Disproportionate Short Stature: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...) View the complete list with 65 more genes Panel GTR000512595 complete gene list SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2, CHST3, GPC6, LFNG, HES7, MESP2, TBCE, OBSL1, CUL7, ARSE, NEK1, ICK, ROR2, DYNC2H1, WNT5A, TCTN3, SMARCAL1, EXT1, EXT2, DHCR24, EIF2AK3, IFT122, B3GALT6, EVC2, EVC, IFT80, BMPR1B, SH3PXD2B, IFT140, GLI3, CHST14, DYM, PCNT, SOX9, COMP, EBP, PTH1R, CANT1, WDR35, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, HSPG2, ANO5, SHOX, FGFR1, TRPV4, SLC26A2, PRKAR1A, CDKN1C, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, FAM20C, CTSK, AGPS, SLC39A13, FBN1, COL1A1, COL2A1, ANKH Specificity 2 % Genes 5 %
Disproportionate Short Stature: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...) View the complete list with 56 more genes Panel GTR000558820 complete gene list SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE, OBSL1, CUL7, NEK1, ICK, ROR2, DYNC2H1, WNT5A, TCTN3, SMARCAL1, EXT1, EXT2, DHCR24, EIF2AK3, IFT122, B3GALT6, EVC2, EVC, IFT80, BMPR1B, SH3PXD2B, IFT140, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, HSPG2, ANO5, SHOX, FGFR1, TRPV4, SLC26A2, PRKAR1A, CDKN1C, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, FAM20C, CTSK, SLC39A13, FBN1, COL1A1, COL2A1, ANKH Specificity 2 % Genes 5 %
IFT140. By Fulgent Genetics Fulgent Genetics in United States. IFT140 Specificity 100 % Genes 5 %
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel. By Blueprint Genetics in Finland. WDR34, WDR60, NEK1, DYNC2H1, CSPP1, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, GLI2, WDR35 Specificity 7 % Genes 5 %
Craniosynostosis Panel. By Blueprint Genetics in Finland. NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140 , (...) View the complete list with 17 more genes Panel GTR000552770 complete gene list NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, SOX10, EDNRB, PAX3, FGFR1, FGFR2, FGFR3, ALPL, RECQL4 Specificity 3 % Genes 5 %
Skeletal Dysplasias Core Panel. By Blueprint Genetics in Finland. ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...) View the complete list with 91 more genes Panel GTR000558786 complete gene list ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3, ENPP1, OBSL1, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CUL7, ARSE, NEK1, ROR2, ESCO2, DYNC2H1, WNT5A, CSPP1, IFT172, SMARCAL1, DHCR24, EIF2AK3, B3GALT6, EVC2, EVC, IFT80, TTC21B, SERPINH1, BMP1, PLS3, GNPAT, WDR19, BMPR1B, LTBP2, IFT140, DYM, ADAMTSL2, PCNT, SOX9, COMP, EBP, PTH1R, CANT1, WDR35, KAT6B, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, FLNA, HSPG2, FGF23, PHEX, SHOX, FGFR1, TRPV4, SLC26A2, PEX7, SBDS, SMAD4, CDKN1C, FGFR2, VDR, RUNX2, RMRP, COL10A1, FGFR3, LMX1B, TNFRSF11B, PPIB, TCIRG1, CA2, FAM20C, CYP27B1, CTSK, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SERPINF1, CLCN7, TNFRSF11A, TGFB1, COL1A2, COL1A1, COL2A1, LRP5, FKBP10, ANKH, ALPL Specificity 1 % Genes 5 %
Micromelic Dysplasia Panel. By Blueprint Genetics in Finland. DVL1, IHH, NPR2, INPPL1, GDF5, TRPS1, ADAMTS10, TRIP11, SLC35D1, LIFR, ROR2, WNT5A, EXT1, IFT122, GNAS, WDR19, BMPR1B, LTBP2, IFT140, ADAMTSL2 , (...) View the complete list with 7 more genes Panel GTR000552624 complete gene list DVL1, IHH, NPR2, INPPL1, GDF5, TRPS1, ADAMTS10, TRIP11, SLC35D1, LIFR, ROR2, WNT5A, EXT1, IFT122, GNAS, WDR19, BMPR1B, LTBP2, IFT140, ADAMTSL2, SOX9, WDR35, SHOX, PRKAR1A, SMAD4, FGFR3, FBN1 Specificity 4 % Genes 5 %
SHORT-RIB THORACIC DYSPLASIA. By Laboratorio de Genetica Clinica SL in Spain. DYNC2H1, IFT80, TTC21B, WDR19, IFT140 Specificity 20 % Genes 5 %

Alternate names

Leber Congenital Amaurosis 1; Lca1 Is also known as amaurosis congenita of leber i, lca, retinal blindness, congenital;crb;amaurosis congenita of leber.

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