Unc119, C. Elegans, Homolog Of; Unc119

Description

Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.

Genes related to Unc119, C. Elegans, Homolog Of; Unc119

ATF6
RPGR
CNGA3
CACNA1F
C8orf37
OPN1MW
OPN1LW
PRPH2
GUCA1A
GUCY2D
CACNA2D4
SEMA4A
UNC119
NMNAT1
CRX
RPGRIP1
AIPL1
PROM1
CDHR1
ABCA4
PITPNM3
RIMS1
RAB28
ADAM9
DRAM2
TTLL5
POC1B
RAX2

Clinical Features

Phenotypes and symptoms related to Unc119, C. Elegans, Homolog Of; Unc119

Visual impairment
Photophobia
Nyctalopia
Retinal degeneration
Abnormality of retinal pigmentation
Abnormality of color vision
Neurofibromas

Incidence and onset information

— Based on the latest data available Unc119, C. Elegans, Homolog Of; Unc119 have a estimated prevalence of 2.5 per 100k worldwide.

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Unc119, C. Elegans, Homolog Of; Unc119 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 65 % Genes 86 %
Achromatopsia (ACHM) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3 Specificity 34 % Genes 8 %
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 9 % Genes 93 %
Achromatopsia Panel. By CeGaT GmbH in Germany. PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3 Specificity 34 % Genes 8 %
Single gene testing ATF6. By CeGaT GmbH in Germany. ATF6 Specificity 100 % Genes 4 %
Achromatopsia. By Asper Biogene Asper Biogene LLC in Estonia. PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3 Specificity 34 % Genes 8 %
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 10 % Genes 100 %
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 73 % Genes 86 %
Achromatopsia panel. By Molecular Vision Laboratory in United States. PDE6H, ATF6, CNGA3, PDE6C, GNAT2, CNGB3 Specificity 34 % Genes 8 %
ATF6. By Fulgent Genetics Fulgent Genetics in United States. ATF6 Specificity 100 % Genes 4 %
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 10 % Genes 90 %
Achromatopsia Panel. By Blueprint Genetics in Finland. RGS9BP, PDE6H, ATF6, CNGA3, RGS9, PDE6C, GNAT2, CNGB3 Specificity 25 % Genes 8 %
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 4 % Genes 72 %
RPGR Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 4 %
RPGR Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 4 %
RPGR Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 4 %
RPGR Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 4 %
Macular Degeneration Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2 , (...) View the complete list with 4 more genes Panel GTR000558969 complete gene list CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2, ABCA4, ELOVL4, FBLN5, BEST1 Specificity 25 % Genes 22 %
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40 , (...) View the complete list with 73 more genes Panel GTR000556317 complete gene list SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, GDF2, DOCK8, CCNO, CCDC151, CENPF, PARN, RSPH3, GAS8, DNAJB13, TTC25, SFTPD, TERT, MCIDAS, DNAH1, ELMOD2, DNAH8, BMPR1B, ACVRL1, TERC, BLOC1S6, DKC1, EDN3, OFD1, SCNN1B, SCNN1G, SCNN1A, RTEL1, SLC7A7, SERPINA1, ENG, SMAD4, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, ALMS1, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, RPGR, DTNBP1, ELN, FBLN5, INVS Specificity 2 % Genes 4 %
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 12 % Genes 40 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...) View the complete list with 22 more genes Panel GTR000556372 complete gene list 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, CENPF, RSPH3, GAS8, DNAJB13, TTC25, MCIDAS, DNAH1, DNAH8, OFD1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 4 %
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 5 % Genes 15 %
RPGR. By Institute for Human Genetics University Clinic Freiburg in Germany. RPGR Specificity 100 % Genes 4 %
PulmoGene Panel (64 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...) View the complete list with 44 more genes Panel GTR000509127 complete gene list GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, CSF2RA, SMAD9, RSPH1, DOCK8, SFTPD, TERT, ELMOD2, ACVRL1, TERC, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, NF1, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, HRAS, FOXF1, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, FBN1, RPGR, DTNBP1, ELN, RET, FBLN5 Specificity 2 % Genes 4 %
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 19 % Genes 36 %
PCDNext. By Ambry Genetics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ARMC4, SPAG1, OFD1, CFTR, CCDC39 , (...) View the complete list with 1 more genes Panel GTR000560619 complete gene list DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ARMC4, SPAG1, OFD1, CFTR, CCDC39, RPGR Specificity 5 % Genes 4 %
RPGR mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. RPGR Specificity 100 % Genes 4 %
RPGR. Sequencing of the exon ORF15. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RPGR Specificity 100 % Genes 4 %
RPGR. Sequencing of the exons 1-15. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RPGR Specificity 100 % Genes 4 %
Primary Ciliary Dyskinesia Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553461 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 4 %
Primary Ciliary Dyskinesia Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553475 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 4 %
Comprehensive Pulmonary-Vascular Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 45 more genes Panel GTR000553478 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 4 %
Comprehensive Pulmonary-Vascular Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 44 more genes Panel GTR000553479 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 4 %
Primary Ciliary Dyskinesia Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553487 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 4 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 44 more genes Panel GTR000553502 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 4 %
Cone-rod dystrophy, X-linked (sequence analysis of exon 15a of RPGR gene). By CGC Genetics in Portugal. RPGR Specificity 100 % Genes 4 %
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 64 % Genes 83 %
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 29 % Genes 15 %
Retinitis pigmentosa 3 (sequence analysis of RPGR gene). By CGC Genetics in Portugal. RPGR Specificity 100 % Genes 4 %
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 12 % Genes 29 %
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 10 % Genes 18 %
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 15 %
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 4 %
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. OFD1, RP2, RPGR, CHM Specificity 25 % Genes 4 %
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 4 %
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 17 % Genes 47 %
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 23 % Genes 18 %
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 66 % Genes 83 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 20 more genes Panel GTR000505674 complete gene list PIH1D3, AK7, 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, DNAJB13, TTC25, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 4 %
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 2 % Genes 4 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 19 more genes Panel GTR000552103 complete gene list PIH1D3, AK7, 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, DNAJB13, TTC25, MCIDAS, DNAH1, DNAH8, OFD1, CCDC39, RPGR, INVS Specificity 3 % Genes 4 %
Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 4 %
Retinitis pigmentosa type 3 X-linked. By Centogene AG - the Rare Disease Company in Germany. RPGR Specificity 100 % Genes 4 %
X-linked retinitis pigmentosa. By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom. RPGR Specificity 100 % Genes 4 %
Primary Ciliary Dyskinesia Panel. By CeGaT GmbH in Germany. HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4 , (...) View the complete list with 14 more genes Panel GTR000522398 complete gene list HYDIN, 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, CENPF, RSPH3, GAS8, DNAH8, OFD1, CCDC39, RPGR Specificity 3 % Genes 4 %
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 15 %
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 10 % Genes 22 %
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 56 % Genes 79 %
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 32 % Genes 25 %
Single gene testing RPGR. By CeGaT GmbH in Germany. RPGR Specificity 100 % Genes 4 %
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 29 %
X-Linked Retinitis Pigmentosa (includes RPGR ORF15). By Asper Biogene Asper Biogene LLC in Estonia. OFD1, RP2, RPGR Specificity 34 % Genes 4 %
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 67 % Genes 72 %
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 9 % Genes 83 %
X-Linked RP Panel. By Molecular Vision Laboratory in United States. OFD1, RP2, RS1, RPGR, CHM Specificity 20 % Genes 4 %
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 9 % Genes 86 %
VECMD. By VECMD VECMD in Mexico. RPGR Specificity 100 % Genes 4 %
Retinitis pigmentosa 3. By Praxis fuer Humangenetik Wien in Austria. RPGR Specificity 100 % Genes 4 %
RPGR. By Division Human Genetics Medical University Innsbruck in Austria. RPGR Specificity 100 % Genes 4 %
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 2 % Genes 15 %
Retinitis pigmentosa 3. By MedGene in Slovakia. RPGR Specificity 100 % Genes 4 %
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 4 %
Invitae Primary Ciliary Dyskinesia Panel. By Invitae in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...) View the complete list with 14 more genes Panel GTR000514953 complete gene list 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, OFD1, CCDC39, RPGR Specificity 3 % Genes 4 %
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 1 % Genes 4 %
Cone-Rod dystrophy type 1: RPGR gene sequence analysis (exons 1-15 and ORF15). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. RPGR Specificity 100 % Genes 4 %
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 10 % Genes 15 %
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 31 % Genes 15 %
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 19 % Genes 18 %
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 13 % Genes 25 %
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 64 % Genes 68 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RPGR Specificity 100 % Genes 4 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RPGR Specificity 100 % Genes 4 %
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 56 % Genes 72 %
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 10 % Genes 72 %
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 34 % Genes 18 %
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 16 % Genes 36 %
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 5 % Genes 18 %
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 16 % Genes 68 %
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 56 % Genes 72 %
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 6 % Genes 18 %
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 10 % Genes 72 %
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 6 % Genes 18 %
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 13 % Genes 61 %
Macular Degeneration NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CX3CR1, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, EFEMP1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, TLR4, FBLN5 Specificity 20 % Genes 15 %
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 12 % Genes 36 %
RPGR. By Fulgent Genetics Fulgent Genetics in United States. RPGR Specificity 100 % Genes 4 %
X-chromosome High Resolution microarray analysis. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA , (...) View the complete list with 140 more genes Panel GTR000507942 complete gene list SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA, XK, XIAP, ZIC3, F8, F9, EFNB1, SH2D1A, PGK1, CSF2RA, KDM6A, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, ZC4H2, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, IGBP1, PHF8, GATA1, NLGN3, NLGN4X, AP1S2, MED12, MID1, SMPX, PRPS1, RAB39B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, ATRX, SMS, OFD1, PIGA, WDR45, SRPX2, FLNA, PQBP1, DCX, ALG13, SLC35A2, EMD, MTM1, UBQLN2, FHL1, L1CAM, COL4A5, AVPR2, ANOS1, SHOX, NR0B1, UBA1, GJB1, BTK, WAS, CYBB, G6PD, HDAC8, SRY, POU3F4, PORCN, PLP1, PCDH19, IKBKG, IDS, GLA, DMD, CDKL5, ARX, AR, IL2RG, SLC6A8, TMLHE, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, RP2, PHKA2, RS1, MECP2, RPGR, ALAS2, NHS, HPRT1, NDP, CACNA1F, OCRL, HSD17B10, GPR143, CHM, OPN1MW, ATP7A Specificity 2 % Genes 11 %
Primary Ciliary Dyskinesia Panel. By Blueprint Genetics in Finland. PIH1D3, HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 16 more genes Panel GTR000552707 complete gene list PIH1D3, HYDIN, 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, CENPF, RSPH3, GAS8, DNAH1, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 4 %
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 27 % Genes 25 %
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 53 % Genes 79 %
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 13 % Genes 50 %
X-linked Retinitis pigmentosa. By Bioarray in Spain. RPGR Specificity 100 % Genes 4 %
RETINITIS PIGMENTOSA (X-LINKED). By Laboratorio de Genetica Clinica SL in Spain. RP2, RPGR Specificity 50 % Genes 4 %
Cone Rod Distrophy Type 1 , Sequencing RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 4 %
Retinitis Pigmentosa, Sequencing RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 4 %
Cone-Rod Dystrophy Type 1, Sequencing Exons (1-19) and ORF15 RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 4 %
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 10 % Genes 15 %
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 19 % Genes 18 %
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 64 % Genes 68 %
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 13 % Genes 25 %
Achromatopsia 2 - CNGA3 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. CNGA3 Specificity 100 % Genes 4 %
Acromatopsia, CNGA3/CNGB3, Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CNGA3, CNGB3 Specificity 50 % Genes 4 %
CNGA3. By Institute for Human Genetics University Clinic Freiburg in Germany. CNGA3 Specificity 100 % Genes 4 %
CNGA3 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CNGA3 Specificity 100 % Genes 4 %
CNGA3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CNGA3 Specificity 100 % Genes 4 %
Achromatopsia 2 (sequence analysis of CNGA3 gene). By CGC Genetics in Portugal. CNGA3 Specificity 100 % Genes 4 %
Achromatopsia (ACHM) via CNGA3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CNGA3 Specificity 100 % Genes 4 %
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 25 % Genes 25 %
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 22 % Genes 25 %
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 22 % Genes 25 %
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 22 % Genes 25 %
Achromatopsia type 2. By Centogene AG - the Rare Disease Company in Germany. CNGA3 Specificity 100 % Genes 4 %
Single gene testing CNGA3. By CeGaT GmbH in Germany. CNGA3 Specificity 100 % Genes 4 %
CNGA3-Achromatopsia 2. By GGA - Galil Genetic Analysis in Israel. CNGA3 Specificity 100 % Genes 4 %
CNGA3 single gene sequencing. By Molecular Vision Laboratory in United States. CNGA3 Specificity 100 % Genes 4 %
Achromatopsia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PDE6H, CNGA3, PDE6C, GNAT2, CNGB3 Specificity 20 % Genes 4 %
Achromatopsia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNGA3, PDE6C, GNAT2, CNGB3 Specificity 25 % Genes 4 %
CNGA3. By Fulgent Genetics Fulgent Genetics in United States. CNGA3 Specificity 100 % Genes 4 %
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 24 % Genes 22 %
Achromatopsia type 2. By Bioarray in Spain. CNGA3 Specificity 100 % Genes 4 %
ACHROMATOPSIA. By Laboratorio de Genetica Clinica SL in Spain. PDE6H, CNGA3, PDE6C, GNAT2, CNGB3 Specificity 20 % Genes 4 %
Achromatopsia Type 2 , Sequencing CNGA3 Gene. By Reference Laboratory Genetics in Spain. CNGA3 Specificity 100 % Genes 4 %
Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. PDE6H, CNGA3, PDE6C, GNAT2, CNGB3 Specificity 20 % Genes 4 %
Congenital Stationary Night Blindness Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GPR179, LRIT3, GNB3, RDH5, GRM6, NYX, CABP4, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F Specificity 7 % Genes 4 %
CACNA1F. By Institute for Human Genetics University Clinic Freiburg in Germany. CACNA1F Specificity 100 % Genes 4 %
CACNA1F mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CACNA1F Specificity 100 % Genes 4 %
Aland Island eye disease (sequence analysis of CACNA1F gene). By CGC Genetics in Portugal. CACNA1F Specificity 100 % Genes 4 %
Night blindness, congenital stationary (NGS panel of 13 genes). By CGC Genetics in Portugal. GPR179, LRIT3, GNB3, GRM6, NYX, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F Specificity 8 % Genes 4 %
Night blindness, congenital stationary (NGS panel of 13 genes). By CGC Genetics in Portugal. GPR179, LRIT3, GNB3, GRM6, NYX, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F Specificity 8 % Genes 4 %
Cone-rod Dystrophy (CORDX3) via the CACNA1F Gene. By PreventionGenetics PreventionGenetics in United States. CACNA1F Specificity 100 % Genes 4 %
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 13 % Genes 8 %
Night blindness, congenital stationary type 2A. By Centogene AG - the Rare Disease Company in Germany. CACNA1F Specificity 100 % Genes 4 %
Aland Island eye disease. By Centogene AG - the Rare Disease Company in Germany. CACNA1F Specificity 100 % Genes 4 %
Cone-rod dystrophy, X-linked type 3. By Centogene AG - the Rare Disease Company in Germany. CACNA1F Specificity 100 % Genes 4 %
Congenital Stationary Night Blindness Panel. By CeGaT GmbH in Germany. RBP4, GPR179, LRIT3, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F Specificity 14 % Genes 8 %
Single gene testing CACNA1F. By CeGaT GmbH in Germany. CACNA1F Specificity 100 % Genes 4 %
Congenital Stationary Night Blindness. By Asper Biogene Asper Biogene LLC in Estonia. GRM6, NYX, CABP4, GNAT1, TRPM1, GRK1, PDE6B, RHO, SAG, CACNA1F Specificity 10 % Genes 4 %
Congenital Stationary Night Blindness panel. By Molecular Vision Laboratory in United States. GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F Specificity 8 % Genes 4 %
CACNA1F single gene sequencing. By Molecular Vision Laboratory in United States. CACNA1F Specificity 100 % Genes 4 %
Autism. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. OXTR, GABRG3, GABRA5, EN2, PDE8B, LAMB1, SLC6A4, SLC9A9, CNTN4, RPL10, NLGN3, NLGN4X, HOXA1, CACNA1C, FOXP2, PTCHD1, SHANK3, CNTNAP2, NRXN1, RELN , (...) View the complete list with 8 more genes Panel GTR000531635 complete gene list OXTR, GABRG3, GABRA5, EN2, PDE8B, LAMB1, SLC6A4, SLC9A9, CNTN4, RPL10, NLGN3, NLGN4X, HOXA1, CACNA1C, FOXP2, PTCHD1, SHANK3, CNTNAP2, NRXN1, RELN, GABRB3, CACNA1H, PCDH19, ARX, SLC25A12, MECP2, CACNA1F, UBE3A Specificity 4 % Genes 4 %
Congenital Stationary Night Blindness: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RBP4, GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, SLC24A1, PDE6B, RHO, SAG, CACNA1F Specificity 14 % Genes 8 %
Congenital Stationary Night Blindness: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RBP4, GPR179, LRIT3, RDH5, GRM6, NYX, CABP4, GNAT1, CACNA2D4, TRPM1, SLC24A1, PDE6B, RHO, SAG, CACNA1F Specificity 14 % Genes 8 %
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 71 % Genes 61 %
CACNA1F. By Fulgent Genetics Fulgent Genetics in United States. CACNA1F Specificity 100 % Genes 4 %
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 12 % Genes 8 %
ALAND ISLAND EYE DISEASE (FORSIUS-ERIKSSON SYNDROME; OA2). By Laboratorio de Genetica Clinica SL in Spain. CACNA1F Specificity 100 % Genes 4 %
OCULAR ALBINISM (X-LINKED). By Laboratorio de Genetica Clinica SL in Spain. CACNA1F, GPR143 Specificity 50 % Genes 4 %
NIGHT BLINDNESS, CONGENITAL STATIONARY (X-LINKED). By Laboratorio de Genetica Clinica SL in Spain. NYX, CACNA1F Specificity 50 % Genes 4 %
X-Linked Cone-Rod Distrophy Type 3, Sequencing CACNA1F Gene. By Reference Laboratory Genetics in Spain. CACNA1F Specificity 100 % Genes 4 %
Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. GPR179, RDH5, GRM6, NYX, CABP4, GNAT1, TRPM1, GRK1, SLC24A1, PDE6B, RHO, SAG, CACNA1F Specificity 8 % Genes 4 %
C8ofr37 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. C8orf37 Specificity 100 % Genes 4 %
C8ofr37 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. C8orf37 Specificity 100 % Genes 4 %
C8orf37 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. C8orf37 Specificity 100 % Genes 4 %
C8orf37 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. C8orf37 Specificity 100 % Genes 4 %
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 4 % Genes 4 %
C8orf37. By Institute for Human Genetics University Clinic Freiburg in Germany. C8orf37 Specificity 100 % Genes 4 %
Retinitis pigmentosa 64 (sequence analysis of C8ORF37 gene). By CGC Genetics in Portugal. C8orf37 Specificity 100 % Genes 4 %
Cone-Rod Dystrophy and Retinitis Pigmentosa via C8orf37 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. C8orf37 Specificity 100 % Genes 4 %
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 14 % Genes 29 %
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 4 %
Retinitis pigmentosa type 64, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. C8orf37 Specificity 100 % Genes 4 %
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 5 % Genes 4 %
C8ORF37 single gene sequencing. By Molecular Vision Laboratory in United States. C8orf37 Specificity 100 % Genes 4 %
C8orf37. By Fulgent Genetics Fulgent Genetics in United States. C8orf37 Specificity 100 % Genes 4 %
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 1 % Genes 4 %
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 3 % Genes 8 %
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 4 %
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 6 % Genes 11 %
Blue Cone Monochromacy Panel. By Molecular Vision Laboratory in United States. OPN1LW, OPN1MW Specificity 100 % Genes 8 %
OPN1LW. By Fulgent Genetics Fulgent Genetics in United States. OPN1LW Specificity 100 % Genes 4 %
PRPH2 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. PRPH2 Specificity 100 % Genes 4 %
PRPH2 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. PRPH2 Specificity 100 % Genes 4 %
PRPH2 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. PRPH2 Specificity 100 % Genes 4 %
PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. PRPH2 Specificity 100 % Genes 4 %
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 25 % Genes 22 %
Amyotrophic Lateral Sclerosis. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. VEGFA, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPART, ATXN2, C9orf72, FIG4, NEFH, SOD1, VCP, PRPH2 , (...) View the complete list with 1 more genes Panel GTR000552113 complete gene list VEGFA, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPART, ATXN2, C9orf72, FIG4, NEFH, SOD1, VCP, PRPH2, OPTN Specificity 5 % Genes 4 %
PRPH2. By Institute for Human Genetics University Clinic Freiburg in Germany. PRPH2 Specificity 100 % Genes 4 %
PRPH2 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. PRPH2 Specificity 100 % Genes 4 %
PRPH2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PRPH2 Specificity 100 % Genes 4 %
Best Vitelliform Macular Dystrophy (deletion/duplication analysis of BEST1 and PRPH2 genes). By CGC Genetics in Portugal. PRPH2, BEST1 Specificity 50 % Genes 4 %
Best Vitelliform Macular Dystrophy (sequence analysis of BEST1 and PRPH2 genes). By CGC Genetics in Portugal. PRPH2, BEST1 Specificity 50 % Genes 4 %
Choriodal dystrophy, central areolar 2 (sequence analysis of PRPH2 gene). By CGC Genetics in Portugal. PRPH2 Specificity 100 % Genes 4 %
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 30 % Genes 22 %
Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes). By CGC Genetics in Portugal. PRPH2, BEST1 Specificity 50 % Genes 4 %
Macular dystrophy (sequence analysis of PRPH2 gene). By CGC Genetics in Portugal. PRPH2 Specificity 100 % Genes 4 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene). By CGC Genetics in Portugal. PRPH2 Specificity 100 % Genes 4 %
Retinitis punctata albescens (sequence analysis of PRPH2 gene). By CGC Genetics in Portugal. PRPH2 Specificity 100 % Genes 4 %
Macular dystrophy (sequence analysis of PRPH2 gene). By CGC Genetics in Portugal. PRPH2 Specificity 100 % Genes 4 %
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 14 % Genes 15 %
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 24 % Genes 11 %
Retinitis Pigmentosa via the PRPH2 (RDS) Gene. By PreventionGenetics PreventionGenetics in United States. PRPH2 Specificity 100 % Genes 4 %
PRPH2-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. PRPH2 Specificity 100 % Genes 4 %
Fundus albipunctatus. By Centogene AG - the Rare Disease Company in Germany. PRPH2 Specificity 100 % Genes 4 %
Macular dystrophy, vitelliform. By Centogene AG - the Rare Disease Company in Germany. PRPH2 Specificity 100 % Genes 4 %
Patterned dystrophy of retinal pigment epithelium. By Centogene AG - the Rare Disease Company in Germany. PRPH2 Specificity 100 % Genes 4 %
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 4 %
ALS panel. By Centogene AG - the Rare Disease Company in Germany. VPS54, VEGFA, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPART, ATXN2, C9orf72, FIG4, NEFH, SOD1, VCP , (...) View the complete list with 2 more genes Panel GTR000503152 complete gene list VPS54, VEGFA, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPART, ATXN2, C9orf72, FIG4, NEFH, SOD1, VCP, PRPH2, OPTN Specificity 5 % Genes 4 %
Choroidal dystrophy, central areolar type 2. By Centogene AG - the Rare Disease Company in Germany. PRPH2 Specificity 100 % Genes 4 %
Retinitis pigmentosa type 7, autosomal dominant. By Centogene AG - the Rare Disease Company in Germany. PRPH2 Specificity 100 % Genes 4 %
Macular dystrophy. By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom. PRPH2 Specificity 100 % Genes 4 %
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 30 % Genes 22 %
Single gene testing PRPH2. By CeGaT GmbH in Germany. PRPH2 Specificity 100 % Genes 4 %
Vitelliform Macular Dystrophy. By Asper Biogene Asper Biogene LLC in Estonia. PRPH2, BEST1 Specificity 50 % Genes 4 %
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 16 % Genes 15 %
Stargardt Panel. By Molecular Vision Laboratory in United States. CDH3, IMPG1, DRAM2, TTLL5, EFEMP1, TIMP3, IMPG2, RP1L1, PROM1, PRPH2, ABCA4, ELOVL4, BEST1 Specificity 39 % Genes 18 %
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 27 % Genes 22 %
Retinitis pigmentosa 7. By Praxis fuer Humangenetik Wien in Austria. PRPH2 Specificity 100 % Genes 4 %
PRPH2. By Division Human Genetics Medical University Innsbruck in Austria. PRPH2 Specificity 100 % Genes 4 %
Retinitis pigmentosa 7. By MedGene in Slovakia. PRPH2 Specificity 100 % Genes 4 %
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 32 % Genes 22 %
Fundus albipunctatus: PRPH2 (RDS) gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRPH2 Specificity 100 % Genes 4 %
Macular dystrophy:PRPH2 (RDS) gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRPH2 Specificity 100 % Genes 4 %
Flecked-retina Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PLA2G5, RDH5, RHO, RLBP1, PRPH2, ABCA4 Specificity 34 % Genes 8 %
Flecked-retina Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PLA2G5, RDH5, RHO, RLBP1, PRPH2, ABCA4 Specificity 34 % Genes 8 %
PRPH2. By Fulgent Genetics Fulgent Genetics in United States. PRPH2 Specificity 100 % Genes 4 %
Flecked Retina Disorders Panel. By Blueprint Genetics in Finland. PLA2G5, VPS13B, RDH5, CYP4V2, RS1, PROM1, RHO, RLBP1, PRPH2, ABCA4, ELOVL4, CHM Specificity 25 % Genes 11 %
Vitelliform macular dystrophy, adult-onset. By Bioarray in Spain. PRPH2 Specificity 100 % Genes 4 %
FOVEOMACULAR VITELLIFORM DYSTROPHY. By Laboratorio de Genetica Clinica SL in Spain. PRPH2, BEST1 Specificity 50 % Genes 4 %
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. PRPF3, PRPF31, IMPDH1, RHO, PRPH2, RP1 Specificity 17 % Genes 4 %
RETINITIS PUNCTATA ALBESCENS. By Laboratorio de Genetica Clinica SL in Spain. RDH5, RHO, RLBP1, PRPH2 Specificity 25 % Genes 4 %
Patterned Macular Dystrophy Type 1 , Sequencing PRPH2 Gene. By Reference Laboratory Genetics in Spain. PRPH2 Specificity 100 % Genes 4 %
Fundus Albipunctatus, Sequencing PRPH2 (RDS) Gene. By Reference Laboratory Genetics in Spain. PRPH2 Specificity 100 % Genes 4 %
Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes. By Reference Laboratory Genetics in Spain. PRPH2, BEST1 Specificity 50 % Genes 4 %
Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. PROM1, PRPH2, CNGB3, ABCA4, ELOVL4 Specificity 60 % Genes 11 %
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 25 % Genes 11 %
Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes. By Reference Laboratory Genetics in Spain. RDH5, RHO, RLBP1, PRPH2 Specificity 25 % Genes 4 %
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 12 % Genes 11 %
Cone-rod dystrophy 14 (sequence analysis of GUCA1A gene). By CGC Genetics in Portugal. GUCA1A Specificity 100 % Genes 4 %
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via GUCA1A Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GUCA1A Specificity 100 % Genes 4 %
Cone-rod dystrophy type 14. By Centogene AG - the Rare Disease Company in Germany. GUCA1A Specificity 100 % Genes 4 %
Single gene testing GUCA1A. By CeGaT GmbH in Germany. GUCA1A Specificity 100 % Genes 4 %
GUCA1A single gene sequencing. By Molecular Vision Laboratory in United States. GUCA1A Specificity 100 % Genes 4 %
Cone-Rod dystrophy type 14: GUCA1A gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GUCA1A Specificity 100 % Genes 4 %
GUCA1A. By Fulgent Genetics Fulgent Genetics in United States. GUCA1A Specificity 100 % Genes 4 %
Cone dystrophy. By Bioarray in Spain. GUCA1A Specificity 100 % Genes 4 %
CONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. GUCA1A, CRX, GUCY2D, AIPL1 Specificity 100 % Genes 15 %
GUCY2D Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. GUCY2D Specificity 100 % Genes 4 %
GUCY2D Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. GUCY2D Specificity 100 % Genes 4 %
GUCY2D Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. GUCY2D Specificity 100 % Genes 4 %
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 27 % Genes 18 %
GUCY2D. By Institute for Human Genetics University Clinic Freiburg in Germany. GUCY2D Specificity 100 % Genes 4 %
GUCY2D Gene Sequencing. By GeneDx in United States. GUCY2D Specificity 100 % Genes 4 %
GUCY2D. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GUCY2D Specificity 100 % Genes 4 %
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 4 %
ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CRX, GUCY2D, ABCA4 Specificity 100 % Genes 11 %
Central areolar choroidal dystrophy (sequence analysis of GUCY2D gene). By CGC Genetics in Portugal. GUCY2D Specificity 100 % Genes 4 %
Leber congenital amaurosis 1 (sequence analysis of GUCY2D gene). By CGC Genetics in Portugal. GUCY2D Specificity 100 % Genes 4 %
Leber congenital amaurosis (deletions/duplications of GUCY2D, RDH12, RPGRIP1 and CEP290 genes). By CGC Genetics in Portugal. RDH12, GUCY2D, RPGRIP1, CEP290 Specificity 50 % Genes 8 %
Cone-Rod Dystrophy 6. By Exeter Molecular Genetics Laboratory in United Kingdom. GUCY2D Specificity 100 % Genes 4 %
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 4 %
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 17 % Genes 18 %
GUCY2D-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. GUCY2D Specificity 100 % Genes 4 %
Leber congenital amaurosis type 1. By Centogene AG - the Rare Disease Company in Germany. GUCY2D Specificity 100 % Genes 4 %
Single gene testing GUCY2D. By CeGaT GmbH in Germany. GUCY2D Specificity 100 % Genes 4 %
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 30 % Genes 18 %
GUCY2D single gene sequencing. By Molecular Vision Laboratory in United States. GUCY2D Specificity 100 % Genes 4 %
Cone-rod dystrophy 6. By Praxis fuer Humangenetik Wien in Austria. GUCY2D Specificity 100 % Genes 4 %
Leber congenital amaurosis 1. By Praxis fuer Humangenetik Wien in Austria. GUCY2D Specificity 100 % Genes 4 %
GUCY2D. By Division Human Genetics Medical University Innsbruck in Austria. GUCY2D Specificity 100 % Genes 4 %
Cone-rod dystrophy 6. By MedGene in Slovakia. GUCY2D Specificity 100 % Genes 4 %
Leber congenital amaurosis 1. By MedGene in Slovakia. GUCY2D Specificity 100 % Genes 4 %
Leber congenital amaurosis 1: GUCY2D gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GUCY2D Specificity 100 % Genes 4 %
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 30 % Genes 18 %
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 23 % Genes 15 %
GUCY2D. By Fulgent Genetics Fulgent Genetics in United States. GUCY2D Specificity 100 % Genes 4 %
Leber congenital amaurosis type 1. By Bioarray in Spain. GUCY2D Specificity 100 % Genes 4 %
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 1 % Genes 8 %
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 27 % Genes 15 %
Leber Congenital Amaurosis Type 1, Sequencing GUCY2D Gene. By Reference Laboratory Genetics in Spain. GUCY2D Specificity 100 % Genes 4 %
Cone Rod Distrophy Type 6 , Sequencing GUCY2D Gene. By Reference Laboratory Genetics in Spain. GUCY2D Specificity 100 % Genes 4 %
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 30 % Genes 18 %
Retinal cone dystrophy 4 (sequence analysis of CACNA2D4 gene). By CGC Genetics in Portugal. CACNA2D4 Specificity 100 % Genes 4 %
Cone-Rod Dystrophy via the CACNA2D4 Gene. By PreventionGenetics PreventionGenetics in United States. CACNA2D4 Specificity 100 % Genes 4 %
Retinal cone dystrophy type 4. By Centogene AG - the Rare Disease Company in Germany. CACNA2D4 Specificity 100 % Genes 4 %
Ashkenazi Jewish Panel. By Molecular Vision Laboratory in United States. MAK, LCA5, CACNA2D4, TRPM1, FAM161A, DHDDS, PCDH15, CLRN1 Specificity 13 % Genes 4 %
CACNA2D4 single gene sequencing. By Molecular Vision Laboratory in United States. CACNA2D4 Specificity 100 % Genes 4 %
CACNA2D4. By Fulgent Genetics Fulgent Genetics in United States. CACNA2D4 Specificity 100 % Genes 4 %
SEMA4A Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. SEMA4A Specificity 100 % Genes 4 %
SEMA4A Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. SEMA4A Specificity 100 % Genes 4 %
SEMA4A Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. SEMA4A Specificity 100 % Genes 4 %
SEMA4A Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. SEMA4A Specificity 100 % Genes 4 %
SEMA4A. By Institute for Human Genetics University Clinic Freiburg in Germany. SEMA4A Specificity 100 % Genes 4 %
Retinitis pigmentosa 35 (sequence analysis of SEMA4A gene). By CGC Genetics in Portugal. SEMA4A Specificity 100 % Genes 4 %
Retinitis Pigmentosa 35 (RP35) and Cone-rod dystrophy 10 (CORD10) via the SEMA4A Gene. By PreventionGenetics PreventionGenetics in United States. SEMA4A Specificity 100 % Genes 4 %
SEMA4A-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. SEMA4A Specificity 100 % Genes 4 %
Retinitis pigmentosa type 35, autosomal dominant/recessive. By Centogene AG - the Rare Disease Company in Germany. SEMA4A Specificity 100 % Genes 4 %
SEMA4A. By Fulgent Genetics Fulgent Genetics in United States. SEMA4A Specificity 100 % Genes 4 %
Cone-rod dystrophy (sequence analysis of UNC119 gene). By CGC Genetics in Portugal. UNC119 Specificity 100 % Genes 4 %
Cone-Rod Dystrophy via UNC119 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. UNC119 Specificity 100 % Genes 4 %
Cone-rod dystrophy. By Centogene AG - the Rare Disease Company in Germany. UNC119 Specificity 100 % Genes 4 %
Combined immunodeficiencies Panel. By CeGaT GmbH in Germany. TAPBP, TAP2, TRAC, TNFRSF4, RHOH, IKBKB, LCK, CD247, CD8A, CORO1A, CD3G, MBL2, MALT1, IL21R, ACP5, CARD11, PRKDC, CR2, TTC7A, STK4 , (...) View the complete list with 40 more genes Panel GTR000528903 complete gene list TAPBP, TAP2, TRAC, TNFRSF4, RHOH, IKBKB, LCK, CD247, CD8A, CORO1A, CD3G, MBL2, MALT1, IL21R, ACP5, CARD11, PRKDC, CR2, TTC7A, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, CD27, LRBA, PIK3CD, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ITK, POLE, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, STIM1, THBD, JAK3, DOCK8, UNC119, MAGT1, SEMA3E, TBX1, DCLRE1C, RMRP, CHD7, PNP, IL2RG, ADA, AK2, TAP1 Specificity 2 % Genes 4 %
UNC119. By Fulgent Genetics Fulgent Genetics in United States. UNC119 Specificity 100 % Genes 4 %
Primary Immunodeficiency Panel. By Blueprint Genetics in Finland. BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...) View the complete list with 255 more genes Panel GTR000552725 complete gene list BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8, CD247, CD8A, MTHFD1, STAT2, EXTL3, SMARCD2, WDR1, CD70, CORO1A, CD3G, TCF3, IL17RA, TRAF3IP2, MALT1, IL21R, IL21, NFKB1, COPA, CEBPE, COLEC11, TMC8, TMC6, CFP, PEPD, ITGB2, NCF1, CD79B, IGLL1, CD79A, BLNK, PLCG2, C1QB, RBCK1, C1QA, ACP5, C1QC, RNF31, IL10, DDX58, IL1RN, PSENEN, NCSTN, TNFAIP3, NLRP1, CARD14, IL36RN, SPINK5, SERPING1, TRNT1, RNF168, CLPB, USP18, RNU4ATAC, DNMT3B, IL2RA, SAMD9L, SAMD9, CARD11, TMEM173, NLRP12, UNC93B1, C2, DNAJC21, PGM3, PSTPIP1, PRKCD, ISG15, IL12B, ADA2, CFD, TYK2, PRKDC, IL10RB, ICOS, CD81, CR2, CD19, CARD9, ACD, PIK3R1, TTC7A, SMARCAL1, NLRC4, JAGN1, IL10RA, EPG5, CTLA4, NFKB2, TNFRSF1A, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, WIPF1, CD27, FADD, NFKBIA, LRBA, IRAK4, PIK3CD, LPIN2, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ITK, STXBP2, CASP10, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, CD3D, CD3E, IFNGR2, IFNGR1, CD40LG, CD40, AICDA, TNFRSF13B, CSF3R, IKZF1, MYD88, STIM1, RAB27A, MYO5A, FERMT3, SLC46A1, USB1, SRP72, MASP1, SLC29A3, DGKE, NOD2, C1S, NOP10, NHP2, WRAP53, CTC1, THBD, C3, CD46, CFH, CFI, CFB, JAK3, NCF4, NCF2, SH2D1A, MEFV, ADAR, IFIH1, HELLS, PSMB8, CSF2RB, CSF2RA, DOCK8, PARN, TERT, TERC, LYST, UNC119, CTSC, DKC1, MAGT1, FOXP3, MVK, NLRP3, ACTB, TBX1, VPS13B, TREX1, OFD1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, PIGA, BTK, WAS, RTEL1, SLC7A7, DCLRE1C, CYBB, G6PD, PRF1, SBDS, GATA2, NBN, MRE11, ATM, TINF2, RMRP, NRAS, KRAS, CHD7, CDCA7, NSMCE3, IFNAR2, CD55, RORC, DCLRE1B, DOCK2, MAP3K14, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, SP110, RPSA, IKBKB, LCK, CTPS1, ERCC6L2, ZBTB24, POLE, ZAP70, RAG1, RAG2, IL7R, BLM, CFTR, AIRE, PNP, IL2RG, MOGS, ADA, STAT3, CYBA, SLC35C1, AK2, TCN2, TAP1, UNG, AP3B1, HAX1, CLCN7, CASP8, SLC37A4, STAT1, RECQL4, PMS2 Specificity 1 % Genes 4 %
Severe Combined Immunodeficiency Panel. By Blueprint Genetics in Finland. BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G , (...) View the complete list with 59 more genes Panel GTR000552731 complete gene list BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G, MALT1, ITGB2, SPINK5, DNMT3B, IL2RA, CARD11, PGM3, TYK2, PRKDC, SMARCAL1, EPG5, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, CD27, LRBA, PIK3CD, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ITK, POLE, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, IFNGR1, CD40LG, CD40, STIM1, JAK3, SH2D1A, DOCK8, PARN, UNC119, MAGT1, TBX1, WAS, RTEL1, DCLRE1C, ATM, RMRP, BLM, PNP, IL2RG, ADA, STAT3, AK2, TAP1, STAT1, PMS2 Specificity 2 % Genes 4 %
NMNAT1 Familial Mutation/Variant Analysis. By Baylor Miraca Genetics Laboratories in United States. NMNAT1 Specificity 100 % Genes 4 %
NMNAT1 Prenatal Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. NMNAT1 Specificity 100 % Genes 4 %
NMNAT1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. NMNAT1 Specificity 100 % Genes 4 %
NMNAT1. By Institute for Human Genetics University Clinic Freiburg in Germany. NMNAT1 Specificity 100 % Genes 4 %
Leber congenital amaurosis 9 (LCA9, sequence analysis of NMNAT1 gene). By CGC Genetics in Portugal. NMNAT1 Specificity 100 % Genes 4 %
Leber congenital amaurosis type 9. By Centogene AG - the Rare Disease Company in Germany. NMNAT1 Specificity 100 % Genes 4 %
NMNAT1. By Fulgent Genetics Fulgent Genetics in United States. NMNAT1 Specificity 100 % Genes 4 %
CRX Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CRX Specificity 100 % Genes 4 %
CRX Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CRX Specificity 100 % Genes 4 %
CRX Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. CRX Specificity 100 % Genes 4 %
CRX Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. CRX Specificity 100 % Genes 4 %
CRX. By Institute for Human Genetics University Clinic Freiburg in Germany. CRX Specificity 100 % Genes 4 %
GUCA1A Gene Sequencing. By GeneDx in United States. CRX Specificity 100 % Genes 4 %
CRX Gene Sequencing. By GeneDx in United States. CRX Specificity 100 % Genes 4 %
GUCY2D Select Exons Sequencing. By GeneDx in United States. CRX Specificity 100 % Genes 4 %
CRX. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CRX Specificity 100 % Genes 4 %
Leber congenital amaurosis 7 (sequence analysis of CRX gene). By CGC Genetics in Portugal. CRX Specificity 100 % Genes 4 %
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 40 % Genes 8 %
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 40 % Genes 8 %
Leber Congenital Amaurosis via the CRX Gene. By PreventionGenetics PreventionGenetics in United States. CRX Specificity 100 % Genes 4 %
CRX-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. CRX Specificity 100 % Genes 4 %
Leber congenital amaurosis type 7. By Centogene AG - the Rare Disease Company in Germany. CRX Specificity 100 % Genes 4 %
Cone-rod dystrophy type 2. By Centogene AG - the Rare Disease Company in Germany. CRX Specificity 100 % Genes 4 %
Single gene testing CRX. By CeGaT GmbH in Germany. CRX Specificity 100 % Genes 4 %
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 2 % Genes 4 %
CRX single gene sequencing. By Molecular Vision Laboratory in United States. CRX Specificity 100 % Genes 4 %
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 4 %
CRX. By Fulgent Genetics Fulgent Genetics in United States. CRX Specificity 100 % Genes 4 %
Cone-Rod Dystrophy Type 2 , Sequencing CRX Gene. By Reference Laboratory Genetics in Spain. CRX Specificity 100 % Genes 4 %
RPGRIP1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGRIP1 Specificity 100 % Genes 4 %
RPGRIP1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGRIP1 Specificity 100 % Genes 4 %
RPGRIP1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGRIP1 Specificity 100 % Genes 4 %
RPGRIP1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. RPGRIP1 Specificity 100 % Genes 4 %
RPGRIP1. By Institute for Human Genetics University Clinic Freiburg in Germany. RPGRIP1 Specificity 100 % Genes 4 %
Leber congenital amaurosis type 6 (sequence analysis of RPGRIP1 gene). By CGC Genetics in Portugal. RPGRIP1 Specificity 100 % Genes 4 %
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene. By PreventionGenetics PreventionGenetics in United States. RPGRIP1 Specificity 100 % Genes 4 %
RPGRIP1-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. RPGRIP1 Specificity 100 % Genes 4 %
Leber congenital amaurosis type 6. By Centogene AG - the Rare Disease Company in Germany. RPGRIP1 Specificity 100 % Genes 4 %
Cone-rod dystrophy type 13. By Centogene AG - the Rare Disease Company in Germany. RPGRIP1 Specificity 100 % Genes 4 %
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 4 %
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 4 %
RPGRIP1. By Fulgent Genetics Fulgent Genetics in United States. RPGRIP1 Specificity 100 % Genes 4 %
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 4 %
AIPL1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. AIPL1 Specificity 100 % Genes 4 %
AIPL1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. AIPL1 Specificity 100 % Genes 4 %
AIPL1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. AIPL1 Specificity 100 % Genes 4 %
AIPL1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. AIPL1 Specificity 100 % Genes 4 %
AIPL1. By Institute for Human Genetics University Clinic Freiburg in Germany. AIPL1 Specificity 100 % Genes 4 %
Cone-rod dystrophy (sequence analysis of AIPL1 gene). By CGC Genetics in Portugal. AIPL1 Specificity 100 % Genes 4 %
Retinitis pigmentosa, juvenile (sequence analysis of AIPL1 gene). By CGC Genetics in Portugal. AIPL1 Specificity 100 % Genes 4 %
Retinitis pigmentosa, juvenile (sequence analysis of AIPL1 gene). By CGC Genetics in Portugal. AIPL1 Specificity 100 % Genes 4 %
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AIPL1 Specificity 100 % Genes 4 %
AIPL1-Related Leber Congenital Amaurosis. By Bioscientia GmbH Center for Human Genetics in Germany. AIPL1 Specificity 100 % Genes 4 %
Cone-rod dystrophy. By Centogene AG - the Rare Disease Company in Germany. AIPL1 Specificity 100 % Genes 4 %
Single gene testing AIPL1. By CeGaT GmbH in Germany. AIPL1 Specificity 100 % Genes 4 %
AIPL1 single-gene sequencing . By Molecular Vision Laboratory in United States. AIPL1 Specificity 100 % Genes 4 %
AIPL1. By Fulgent Genetics Fulgent Genetics in United States. AIPL1 Specificity 100 % Genes 4 %
PROM1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. PROM1 Specificity 100 % Genes 4 %
PROM1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. PROM1 Specificity 100 % Genes 4 %
PROM1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. PROM1 Specificity 100 % Genes 4 %
PROM1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. PROM1 Specificity 100 % Genes 4 %
PROM1. By Institute for Human Genetics University Clinic Freiburg in Germany. PROM1 Specificity 100 % Genes 4 %
PROM1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PROM1 Specificity 100 % Genes 4 %
Stargardt disease 4 (sequence analysis of PROM1 gene). By CGC Genetics in Portugal. PROM1 Specificity 100 % Genes 4 %
'Bull's Eye' Macular Dystrophy (BEM), Cone-rod dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene. By PreventionGenetics PreventionGenetics in United States. PROM1 Specificity 100 % Genes 4 %
PROM1-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. PROM1 Specificity 100 % Genes 4 %
Macular dystrophy retinal type 2. By Centogene AG - the Rare Disease Company in Germany. PROM1 Specificity 100 % Genes 4 %
Retinitis pigmentosa type 41, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. PROM1 Specificity 100 % Genes 4 %
Cone-rod dystrophy type 12. By Centogene AG - the Rare Disease Company in Germany. PROM1 Specificity 100 % Genes 4 %
Stargardt Disease type 4. By Centogene AG - the Rare Disease Company in Germany. PROM1 Specificity 100 % Genes 4 %
Single gene testing PROM1. By CeGaT GmbH in Germany. PROM1 Specificity 100 % Genes 4 %
Stargardt Disease, Cone-Rod Dystrophy. By Asper Biogene Asper Biogene LLC in Estonia. PROM1, CNGB3, ABCA4, ELOVL4 Specificity 50 % Genes 8 %
PROM1. By Fulgent Genetics Fulgent Genetics in United States. PROM1 Specificity 100 % Genes 4 %
Best macular dystrophy. By Bioarray in Spain. PROM1 Specificity 100 % Genes 4 %
STARGARDT DISEASE TYPE 4. By Laboratorio de Genetica Clinica SL in Spain. PROM1 Specificity 100 % Genes 4 %
Stargardt Disease Type 4 , Sequencing PROM1 Gene. By Reference Laboratory Genetics in Spain. PROM1 Specificity 100 % Genes 4 %
CDHR1 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CDHR1 Specificity 100 % Genes 4 %
CDHR1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CDHR1 Specificity 100 % Genes 4 %
CDHR1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. CDHR1 Specificity 100 % Genes 4 %
CDHR1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. CDHR1 Specificity 100 % Genes 4 %
CDHR1. By Institute for Human Genetics University Clinic Freiburg in Germany. CDHR1 Specificity 100 % Genes 4 %
Cone-rod dystrophy 15 (sequence analysis of CDHR1 gene). By CGC Genetics in Portugal. CDHR1 Specificity 100 % Genes 4 %
Cone-Rod Dystrophy via the CDHR1 Gene. By PreventionGenetics PreventionGenetics in United States. CDHR1 Specificity 100 % Genes 4 %
Cone-rod dystrophy type 15. By Centogene AG - the Rare Disease Company in Germany. CDHR1 Specificity 100 % Genes 4 %
Single gene testing CDHR1. By CeGaT GmbH in Germany. CDHR1 Specificity 100 % Genes 4 %
CDHR1 single gene sequencing. By Molecular Vision Laboratory in United States. CDHR1 Specificity 100 % Genes 4 %
CDHR1. By Fulgent Genetics Fulgent Genetics in United States. CDHR1 Specificity 100 % Genes 4 %
Cone-Rod Distrophy Type 15 , Sequencing CDHR1 Gene. By Reference Laboratory Genetics in Spain. CDHR1 Specificity 100 % Genes 4 %
ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. ABCA4 Specificity 100 % Genes 4 %
Stargardt, arRP, Age-Related Macular Degeneration, CORD3 - ABCA4 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4. By Institute for Human Genetics University Clinic Freiburg in Germany. ABCA4 Specificity 100 % Genes 4 %
ABCA4 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. ABCA4 Specificity 100 % Genes 4 %
ABCA4. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCA4 Specificity 100 % Genes 4 %
ABCA4. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCA4 Specificity 100 % Genes 4 %
ABCA4. Genotyping array (558 mutations). By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCA4 Specificity 100 % Genes 4 %
ABCA4. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCA4 Specificity 100 % Genes 4 %
ABCA4. MLPA testing (Salsa P152). By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCA4 Specificity 100 % Genes 4 %
ABCA4. MLPA testing (Salsa P151). By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCA4 Specificity 100 % Genes 4 %
Stargardt disease type 1 (deletion/duplication analysis of ABCA4 gene). By CGC Genetics in Portugal. ABCA4 Specificity 100 % Genes 4 %
Stargardt disease type 1 (sequence analysis of ABCA4 gene). By CGC Genetics in Portugal. ABCA4 Specificity 100 % Genes 4 %
Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene). By CGC Genetics in Portugal. ABCA4 Specificity 100 % Genes 4 %
Retinitis pigmentosa 19 (deletion/duplication analysis on ABCA4 gene). By CGC Genetics in Portugal. ABCA4 Specificity 100 % Genes 4 %
Retinitis pigmentosa 19 (deletion/duplication analysis on ABCA4 gene). By CGC Genetics in Portugal. ABCA4 Specificity 100 % Genes 4 %
Retinitis pigmentosa 19 (sequence analysis of ABCA4 gene). By CGC Genetics in Portugal. ABCA4 Specificity 100 % Genes 4 %
Stargardt disease (STGD), Fundus flavimaculatus (FFM) or Retinal dystrophy, early-onset severe via the ABCA4 gene. By PreventionGenetics PreventionGenetics in United States. ABCA4 Specificity 100 % Genes 4 %
ABCA4-Related Retinitis Pigmentosa. By Bioscientia GmbH Center for Human Genetics in Germany. ABCA4 Specificity 100 % Genes 4 %
Retinitis pigmentosa type 19, autosomal dominant. By Centogene AG - the Rare Disease Company in Germany. ABCA4 Specificity 100 % Genes 4 %
Retinal dystrophy, early-onset severe. By Centogene AG - the Rare Disease Company in Germany. ABCA4 Specificity 100 % Genes 4 %
Retinitis pigmentosa type 19, autosomal recessive. By Centogene AG - the Rare Disease Company in Germany. ABCA4 Specificity 100 % Genes 4 %
Cone-rod dystrophy type 3. By Centogene AG - the Rare Disease Company in Germany. ABCA4 Specificity 100 % Genes 4 %
Stargardt Disease type 1. By Centogene AG - the Rare Disease Company in Germany. ABCA4 Specificity 100 % Genes 4 %
Single gene testing ABCA4. By CeGaT GmbH in Germany. ABCA4 Specificity 100 % Genes 4 %
ABCA4-Related Retinitis Pigmentosa. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. ABCA4 Specificity 100 % Genes 4 %
ABCA4-Related Stargardt Disease 1. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. ABCA4 Specificity 100 % Genes 4 %
ABCA4 single-gene sequencing. By Molecular Vision Laboratory in United States. ABCA4 Specificity 100 % Genes 4 %
Cone-Rod dystrophy type 3 (Stargardt disease): ABCA4 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ABCA4 Specificity 100 % Genes 4 %
ABCA4. By Fulgent Genetics Fulgent Genetics in United States. ABCA4 Specificity 100 % Genes 4 %
Stargardt disease. By Bioarray in Spain. ABCA4 Specificity 100 % Genes 4 %
CONE-ROD DYSTROPHY (AUTOSOMAL RECESSIVE). By Laboratorio de Genetica Clinica SL in Spain. ABCA4 Specificity 100 % Genes 4 %
STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS). By Laboratorio de Genetica Clinica SL in Spain. CNGB3, ABCA4 Specificity 50 % Genes 4 %
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE). By Laboratorio de Genetica Clinica SL in Spain. EYS, CERKL, PDE6A, CRB1, PDE6B, RPE65, SAG, USH2A, ABCA4 Specificity 12 % Genes 4 %
Stargardt Disease Type 1 , Sequencing ABCA4 Gene. By Reference Laboratory Genetics in Spain. ABCA4 Specificity 100 % Genes 4 %
Cone Rod Distrophy Type 3 , Sequencing ABCA4 Gene. By Reference Laboratory Genetics in Spain. ABCA4 Specificity 100 % Genes 4 %
Stargardt Disease Type 1 , Deletions-Duplications (MLPA) ABCA4 Gene. By Reference Laboratory Genetics in Spain. ABCA4 Specificity 100 % Genes 4 %
Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes. By Reference Laboratory Genetics in Spain. CX3CR1, C9, ARMS2, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, ABCA4, FBLN5 Specificity 14 % Genes 8 %
Cone-rod dystrophy 5 (sequence analysis of PITPNM3 gene). By CGC Genetics in Portugal. PITPNM3 Specificity 100 % Genes 4 %
Cone-rod Dystrophy via the PITPNM3 Gene. By PreventionGenetics PreventionGenetics in United States. PITPNM3 Specificity 100 % Genes 4 %
Cone-rod dystrophy type 5. By Centogene AG - the Rare Disease Company in Germany. PITPNM3 Specificity 100 % Genes 4 %
PITPNM3. By Fulgent Genetics Fulgent Genetics in United States. PITPNM3 Specificity 100 % Genes 4 %
Cone-rod dystrophy 7 (sequence analysis of RIMS1 gene). By CGC Genetics in Portugal. RIMS1 Specificity 100 % Genes 4 %
Autosomal Dominant Cone-rod Dystrophy via the RIMS1 Gene. By PreventionGenetics PreventionGenetics in United States. RIMS1 Specificity 100 % Genes 4 %
Cone-rod dystrophy type 7. By Centogene AG - the Rare Disease Company in Germany. RIMS1 Specificity 100 % Genes 4 %
RIMS1. By Fulgent Genetics Fulgent Genetics in United States. RIMS1 Specificity 100 % Genes 4 %
RAB28. By Fulgent Genetics Fulgent Genetics in United States. RAB28 Specificity 100 % Genes 4 %
ADAM9. By Institute for Human Genetics University Clinic Freiburg in Germany. ADAM9 Specificity 100 % Genes 4 %
Cone-rod dystrophy 9 (sequence analysis of ADAM9 gene). By CGC Genetics in Portugal. ADAM9 Specificity 100 % Genes 4 %
Cone-Rod Dystrophy via the ADAM9 Gene. By PreventionGenetics PreventionGenetics in United States. ADAM9 Specificity 100 % Genes 4 %
Cone-rod dystrophy type 9. By Centogene AG - the Rare Disease Company in Germany. ADAM9 Specificity 100 % Genes 4 %
ADAM9 single-gene sequencing . By Molecular Vision Laboratory in United States. ADAM9 Specificity 100 % Genes 4 %
ADAM9. By Fulgent Genetics Fulgent Genetics in United States. ADAM9 Specificity 100 % Genes 4 %
Cone-Rod Dystrophy via DRAM2Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DRAM2 Specificity 100 % Genes 4 %
DRAM2. By Fulgent Genetics Fulgent Genetics in United States. DRAM2 Specificity 100 % Genes 4 %
TTLL5. By Fulgent Genetics Fulgent Genetics in United States. TTLL5 Specificity 100 % Genes 4 %
Cone-Rod Dystrophy 20 via POC1B Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POC1B Specificity 100 % Genes 4 %
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 4 %
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 4 %
Cone-rod dystrophy type 20. By Centogene AG - the Rare Disease Company in Germany. POC1B Specificity 100 % Genes 4 %
POC1B. By Fulgent Genetics Fulgent Genetics in United States. POC1B Specificity 100 % Genes 4 %
RAX2. By Institute for Human Genetics University Clinic Freiburg in Germany. RAX2 Specificity 100 % Genes 4 %
Cone-rod dystrophy 11 (sequence analysis of RAX2 gene). By CGC Genetics in Portugal. RAX2 Specificity 100 % Genes 4 %
Cone-Rod Dystrophy (CRD11) via RAX2 (Qrx) Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RAX2 Specificity 100 % Genes 4 %
Macular degeneration, age-related type 6. By Centogene AG - the Rare Disease Company in Germany. RAX2 Specificity 100 % Genes 4 %
Cone-rod dystrophy type 11. By Centogene AG - the Rare Disease Company in Germany. RAX2 Specificity 100 % Genes 4 %
RAX2. By Fulgent Genetics Fulgent Genetics in United States. RAX2 Specificity 100 % Genes 4 %

Alternate names

Unc119, C. Elegans, Homolog Of; Unc119 Is also known as human retinal gene 4;hrg4;.

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