Achromatopsia 2; Achm2

Description

Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent (summary by Kohl et al., 1998). Genetic Heterogeneity of Total AchromatopsiaA form of achromatopsia previously designated achromatopsia-1 (ACHM1) was later found to be the same as achromatopsia-3 (ACHM3 ), caused by mutation in the CNGB3 gene (OMIM ). ACHM4 (OMIM ) is caused by mutation in the GNAT2 gene (OMIM ); ACHM5 (OMIM ) is caused by mutation in the PDE6C gene (OMIM ); ACHM6 (see {610024}) is caused by mutation in the PDE6H gene (OMIM ); and ACHM7 (OMIM ) is caused by mutation in the ATF6 gene (OMIM ).

Genes related to Achromatopsia 2; Achm2

PDE6H
GNAT2
CNGB3
CNGA3
RPGR
ATF6
PDE6C

Clinical Features

Top most frequent phenotypes and symptoms related to Achromatopsia 2; Achm2

Pica
Nystagmus
Visual impairment
Myopia
Blindness
Reduced visual acuity
Photophobia
Hypermetropia
High myopia
Exotropia

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Achromatopsia 2; Achm2 have a estimated prevalence of 2.7 per 100k in Europe.

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Achromatopsia 2; Achm2 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. AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, TULP1, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2 , (...) View the complete list with 17 more genes Panel GTR000558965 complete gene list AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, TULP1, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, EYS, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4 Specificity 19 % Genes 100 %
PDE6H. By Institute for Human Genetics University Clinic Freiburg in Germany. PDE6H Specificity 100 % Genes 15 %
Achromatopsia 6 (sequence analysis of PDE6H gene). By CGC Genetics in Portugal. PDE6H Specificity 100 % Genes 15 %
Cone-rod dystrophy (NGS panel of 36 genes). By CGC Genetics in Portugal. AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...) View the complete list with 16 more genes Panel GTR000523264 complete gene list AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, RGS9BP, PCYT1A Specificity 17 % Genes 86 %
Achromatopsia 6 or Retinal Cone Dystrophy 3 via PDE6H Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PDE6H Specificity 100 % Genes 15 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AIPL1, SPATA7, INPP5E, OTX2, CNGB3, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, GNAT2, LRAT, RDH12, RD3 , (...) View the complete list with 8 more genes Panel GTR000531408 complete gene list AIPL1, SPATA7, INPP5E, OTX2, CNGB3, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, GNAT2, LRAT, RDH12, RD3, CABP4, SNRNP200, IQCB1, LCA5, CNGA3, NMNAT1, PDE6H, DTHD1 Specificity 15 % Genes 58 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...) View the complete list with 15 more genes Panel GTR000509893 complete gene list AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, DRAM2, RGS9BP Specificity 12 % Genes 58 %
Achromatopsia (ACHM) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CNGB3, GNAT2, PDE6C, CNGA3, ATF6, PDE6H Specificity 100 % Genes 86 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, FRMD7, NYX, TIMM8A, ABCD1, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, ALMS1, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, AHI1, PNPLA6, ISPD, LARGE1, HCN1, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PRPS1, PEX6, TMEM231, CTNNB1, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, WDR35, MVK, ABCC6, GNPTG, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, ARL3, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, CFH, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, IFT43, CEP41, CPLANE1, IFT80, ARL13B, B9D2, VSX2, SLC25A46, TCTN3, IFT172, TMEM107, PDE6D, CSPP1, CEP164, ZNF423, CEP83, LRP2, PLK4, TUBGCP4, TUBGCP6, COL18A1, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, RCBTB1, KIAA1549, CEP78, PEX11B, VCAN, PLA2G5, RGS9BP, PCYT1A, TUB, RDH11, ADAMTS18, HMX1, CAPN5, IFT88, PRDM13, IFT81, MIR204, NXNL1, REEP6, SLC4A7, CEP250, CFAP57, OR2W3, ACBD5 Specificity 3 % Genes 100 %
Achromatopsia 6. By Centogene AG - the Rare Disease Company in Germany. PDE6H Specificity 100 % Genes 15 %
Achromatopsia Panel. By CeGaT GmbH in Germany. CNGB3, GNAT2, PDE6C, CNGA3, ATF6, PDE6H Specificity 100 % Genes 86 %
Cone Rod Dystrophies Panel. By CeGaT GmbH in Germany. AIPL1, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PCARE, PDE6C, ADAM9, CACNA2D4, CABP4 , (...) View the complete list with 20 more genes Panel GTR000522433 complete gene list AIPL1, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PCARE, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, CYP4V2, RDH5, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, RGS9BP, PCYT1A, ACBD5 Specificity 15 % Genes 86 %
Single gene testing PDE6H. By CeGaT GmbH in Germany. PDE6H Specificity 100 % Genes 15 %
Cone-Rod Dystrophy. By Asper Biogene Asper Biogene LLC in Estonia. AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...) View the complete list with 10 more genes Panel GTR000520060 complete gene list AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, RAB28, RAX2, PDE6H, CNNM4 Specificity 17 % Genes 72 %
Achromatopsia. By Asper Biogene Asper Biogene LLC in Estonia. CNGB3, GNAT2, PDE6C, CNGA3, ATF6, PDE6H Specificity 100 % Genes 86 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC in Estonia. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...) View the complete list with 255 more genes Panel GTR000553865 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR, PDZD7, RP1, GPR143, OPA1, ABCB6, WFS1, CC2D2A, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, CRYAB, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, AGK, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FYCO1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, GFER, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, GJA3, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, GALT, GALK1, CNGA3, SIX6, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, KRT12, KRT3, PAX2, TEAD1, GSN, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, COL4A1, MFSD8, OFD1, TREX1, VPS13B, CIB2, COL9A1, GIPC3, COL9A2, COL11A1, COL11A2, SLC4A11, MVK, NAA10, PRDM5, ABCC6, ZNF469, GNPTG, UNC119, RAB28, RAX2, PDE6H, CNNM4, GPR179, GDF6, IFT140, CDH3, CHST6, RBP4, WDR19, LZTFL1, WDPCP, SDCCAG8, C19orf12, KIF11, CTDP1, CFH, GJA1, FTL, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, ARL13B, VAX1, FREM1, VSX2, CRYBA4, BMP4, GDF3, PRSS56, B3GLCT, GRIP1, FREM2, FRAS1, LAMA1, ITM2B, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, VCAN, PLA2G5, RGS9BP, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, HSF4, CRYGS, SMOC1, ADAMTS18, HMX1, JAM3, YAP1, ZNF644 Specificity 3 % Genes 86 %
Retinal Dystrophy Panel. By Molecular Vision Laboratory in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...) View the complete list with 267 more genes Panel GTR000522537 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, ABCD1, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, ALMS1, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, MT-TL1, AHI1, MT-ND1, MT-ND6, MT-ND4, PNPLA6, KCTD7, HCN1, CTSF, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, PRPS1, PEX6, TMEM231, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, ABCC6, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, ARL3, RBP4, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, MT-ND5, CFH, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, MT-ND4L, MT-TH, MT-TV, B9D2, SLC25A46, TCTN3, IFT172, PDE6D, CSPP1, CEP164, ZNF423, PLK4, TUBGCP4, TUBGCP6, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, KIAA1549, PEX11B, VCAN, PLA2G5, RGS9BP, TUB, RDH11, ADAMTS18, HMX1, IFT81, MIR204, SLC4A7, CEP250, OR2W3, ACBD5, RHEX, DGKQ, CKAP4 Specificity 3 % Genes 100 %
Cone Rod Dystrophy panel. By Molecular Vision Laboratory in United States. AIPL1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1 , (...) View the complete list with 13 more genes Panel GTR000523346 complete gene list AIPL1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4 Specificity 22 % Genes 100 %
Achromatopsia panel. By Molecular Vision Laboratory in United States. CNGB3, GNAT2, PDE6C, CNGA3, ATF6, PDE6H Specificity 100 % Genes 86 %
MVL Vision Panel. By Molecular Vision Laboratory in United States. ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...) View the complete list with 248 more genes Panel GTR000559625 complete gene list ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, MT-TL1, MT-ND1, MT-ND6, MT-ND4, PNPLA6, KCTD7, HCN1, CTSF, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, PRPS1, PEX6, TMEM231, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, UNC119, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, RBP4, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, MT-ND5, CFH, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, MT-ND4L, MT-TH, MT-TV, SLC25A46, TCTN3, IFT172, PDE6D, CSPP1, CEP164, ZNF423, PLK4, TUBGCP4, TUBGCP6, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, KIAA1549, PEX11B, VCAN, PLA2G5, RGS9BP, TUB, RDH11, HMX1, IFT81, MIR204, SLC4A7, CEP250, OR2W3, RHEX, DGKQ, CKAP4 Specificity 3 % Genes 86 %
Achromatopsia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CNGB3, GNAT2, PDE6C, CNGA3, PDE6H Specificity 100 % Genes 72 %
Cone rod dystrophy. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...) View the complete list with 10 more genes Panel GTR000531637 complete gene list AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, RAX2, PDE6H, CNNM4, RGS9BP Specificity 14 % Genes 58 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...) View the complete list with 16 more genes Panel GTR000512362 complete gene list AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, RAX2, PDE6H, CNNM4, RBP4, RGS9BP Specificity 17 % Genes 86 %
Eye Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...) View the complete list with 190 more genes Panel GTR000512373 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, CNGA3, CYP27A1, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, MAK, NR2E3, PRPF3, RBP3, ROM1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, KCTD7, COL4A1, MFSD8, ATP13A2, OFD1, CIB2, COL9A1, COL9A2, COL11A1, COL11A2, UNC119, RAX2, PDE6H, CNNM4, LRIT3, GPR179, SLC24A5, LRMDA, CDH3, FOXE3, RBP4, LZTFL1, WDPCP, SDCCAG8, TTC21B, TMEM237, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, VAX1, FREM1, VSX2, BMP4, B3GLCT, TCTN3, ZNF423, GRIP1, FREM2, FRAS1, VCAN, PLA2G5, RGS9BP, SMOC1 Specificity 3 % Genes 86 %
Retina/Photoreceptor Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...) View the complete list with 100 more genes Panel GTR000523294 complete gene list ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8, USH2A, PRPH2, MFN2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, OAT, GRM6, CNGA3, CYP4V2, CLN3, RP9, TIMP3, RDH5, FZD4, EFEMP1, MAK, NR2E3, PRPF3, RBP3, ROM1, OFD1, COL9A1, COL9A2, COL11A1, COL11A2, UNC119, RAX2, PDE6H, CNNM4, LRIT3, GPR179, RBP4, CDH15, VCAN, PLA2G5, RGS9BP, C8orf37-AS1 Specificity 5 % Genes 86 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...) View the complete list with 16 more genes Panel GTR000558528 complete gene list AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, RAX2, PDE6H, CNNM4, RBP4, RGS9BP Specificity 17 % Genes 86 %
Eye Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...) View the complete list with 187 more genes Panel GTR000559618 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1, GPR143, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, MAK, NR2E3, PRPF3, RBP3, ROM1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, KCTD7, COL4A1, MFSD8, OFD1, CIB2, COL9A1, COL9A2, COL11A1, COL11A2, UNC119, RAX2, PDE6H, CNNM4, LRIT3, GPR179, CDH3, FOXE3, RBP4, LZTFL1, WDPCP, SDCCAG8, TTC21B, TMEM237, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, VAX1, FREM1, VSX2, BMP4, B3GLCT, TCTN3, ZNF423, GRIP1, FREM2, FRAS1, VCAN, PLA2G5, RGS9BP, SMOC1 Specificity 3 % Genes 86 %
PDE6H. By Fulgent Genetics Fulgent Genetics in United States. PDE6H Specificity 100 % Genes 15 %
Retinal Dystrophy Panel. By Blueprint Genetics in Finland. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...) View the complete list with 240 more genes Panel GTR000552782 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, FRMD7, NYX, TIMM8A, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CLN3, ALMS1, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, MTTP, PEX2, PEX7, PEX1, TTPA, TMEM216, AHI1, PNPLA6, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, COL9A1, COL9A3, COL9A2, COL11A1, PRPS1, PEX6, TMEM231, CTNNB1, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, GNPTG, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, GNB3, LRIT3, GPR179, DTHD1, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, DHX38, SPP2, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, LZTFL1, BBIP1, WDPCP, SDCCAG8, KIF11, CTC1, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, SLC25A46, TCTN3, IFT172, CEP104, TMEM107, PDE6D, CSPP1, CEP164, ZNF423, LRP2, COL18A1, RTN4IP1, CWC27, ARHGEF18, SAMD11, CEP78, PEX11B, VCAN, ATOH7, PLA2G5, RGS9BP, PCYT1A, TUB, RDH11, ADAMTS18, HMX1, CAPN5, PRDM13, IFT81, REEP6, ARMC9 Specificity 3 % Genes 100 %
Achromatopsia Panel. By Blueprint Genetics in Finland. CNGB3, GNAT2, PDE6C, RGS9, CNGA3, ATF6, PDE6H, RGS9BP Specificity 75 % Genes 86 %
Cone Rod Dystrophy Panel. By Blueprint Genetics in Finland. AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, MERTK, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4 , (...) View the complete list with 22 more genes Panel GTR000552737 complete gene list AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, MERTK, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, CYP4V2, CLN3, RDH5, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, ARHGEF18, CEP78, RGS9BP, ADAMTS18 Specificity 15 % Genes 86 %
ACHROMATOPSIA. By Laboratorio de Genetica Clinica SL in Spain. CNGB3, GNAT2, PDE6C, CNGA3, PDE6H Specificity 100 % Genes 72 %
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes. By Reference Laboratory Genetics in Spain. AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...) View the complete list with 10 more genes Panel GTR000559773 complete gene list AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, RAX2, PDE6H, CNNM4, RGS9BP Specificity 14 % Genes 58 %
Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. CNGB3, GNAT2, PDE6C, CNGA3, PDE6H Specificity 100 % Genes 72 %
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN Specificity 1 % Genes 72 %
Achromatopsia - GNAT2 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. GNAT2 Specificity 100 % Genes 15 %
GNAT2. By Institute for Human Genetics University Clinic Freiburg in Germany. GNAT2 Specificity 100 % Genes 15 %
GNAT2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GNAT2 Specificity 100 % Genes 15 %
Achromatopsia 4 (sequence analysis of GNAT2 gene). By CGC Genetics in Portugal. GNAT2 Specificity 100 % Genes 15 %
Achromatopsia (ACHM) via the GNAT2 Gene. By PreventionGenetics PreventionGenetics in United States. GNAT2 Specificity 100 % Genes 15 %
Cancer Hotspot Panel. By Centogene AG - the Rare Disease Company in Germany. BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...) View the complete list with 68 more genes Panel GTR000527970 complete gene list BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, TSC2, TSC1, ALK, ATM, PTCH1, NF2, CDH1, STK11, CDK4, CDKN2A, MET, SMAD4, MPL, NTRK1, NF1, FGFR1, CTNNB1, MTOR, ATR, NOTCH1, EZH2, SMARCB1, KIT, JAK3, GNAS, PIK3CA, MYCN, CSF1R, GNAQ, FLT3, NPM1, EGFR, JAK2, ABL1, PDGFRA, IDH1, FBXW7, GNA11, AKT1, SRC, CDK6, PDGFRB, KDR, CCND1, MDM2, DDR2, ERBB2, CDKN2B, SMO, BCL6, MYC, ERBB4, RICTOR, CD74, CCNE1, NRG1, KEAP1, GNG2, NFE2L2, ARAF, BRD4, EML4, GNA13, GNAI2, KIF5B, RPTOR, ROS1, MYCL Specificity 2 % Genes 15 %
Achromatopsia type 4. By Centogene AG - the Rare Disease Company in Germany. GNAT2 Specificity 100 % Genes 15 %
Single gene testing GNAT2. By CeGaT GmbH in Germany. GNAT2 Specificity 100 % Genes 15 %
GNAT2 single gene sequencing. By Molecular Vision Laboratory in United States. GNAT2 Specificity 100 % Genes 15 %
Achromatopsia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNGB3, GNAT2, PDE6C, CNGA3 Specificity 100 % Genes 58 %
GNAT2. By Fulgent Genetics Fulgent Genetics in United States. GNAT2 Specificity 100 % Genes 15 %
Achromatopsia type 4. By Bioarray in Spain. GNAT2 Specificity 100 % Genes 15 %
Macular Degeneration Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. BEST1, FBLN5, ELOVL4, ABCA4, OTX2, CNGB3, PRPH2, RPGR, PROM1, GUCA1B, RP1L1, IMPG2, FSCN2, C1QTNF5, TIMP3, EFEMP1, MFSD8, RAX2, CTNNA1, DRAM2 , (...) View the complete list with 4 more genes Panel GTR000558969 complete gene list BEST1, FBLN5, ELOVL4, ABCA4, OTX2, CNGB3, PRPH2, RPGR, PROM1, GUCA1B, RP1L1, IMPG2, FSCN2, C1QTNF5, TIMP3, EFEMP1, MFSD8, RAX2, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, CHST6 Specificity 9 % Genes 29 %
Achromatopsia Type - CNGB3 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. CNGB3 Specificity 100 % Genes 15 %
Acromatopsia, CNGA3/CNGB3, Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CNGB3, CNGA3 Specificity 100 % Genes 29 %
CNGB3. By Institute for Human Genetics University Clinic Freiburg in Germany. CNGB3 Specificity 100 % Genes 15 %
CNGB3 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CNGB3 Specificity 100 % Genes 15 %
CNGB3. Detection of the mutation c.1148delC by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CNGB3 Specificity 100 % Genes 15 %
CNGB3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CNGB3 Specificity 100 % Genes 15 %
Achromatopsia 3 (sequence analysis of CNGB3 gene). By CGC Genetics in Portugal. CNGB3 Specificity 100 % Genes 15 %
Stargardt disease and macular distrophy (NGS panel for 14 genes). By CGC Genetics in Portugal. BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, IMPG1, CDH3 Specificity 15 % Genes 29 %
Achromatopsia via CNGB3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CNGB3 Specificity 100 % Genes 15 %
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, RLBP1, PROM1, CRB1, GUCA1B, RS1, RP1L1, IMPG2, RDH12, CERKL, FSCN2, C1QTNF5, TIMP3, EFEMP1 , (...) View the complete list with 2 more genes Panel GTR000531411 complete gene list BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, RLBP1, PROM1, CRB1, GUCA1B, RS1, RP1L1, IMPG2, RDH12, CERKL, FSCN2, C1QTNF5, TIMP3, EFEMP1, RBP3, CDH3 Specificity 10 % Genes 29 %
Achromatopsia type 3. By Centogene AG - the Rare Disease Company in Germany. CNGB3 Specificity 100 % Genes 15 %
Stargardt Disease type 1. By Centogene AG - the Rare Disease Company in Germany. CNGB3 Specificity 100 % Genes 15 %
Stargardt Disease and Macular Dystrophies Panel. By CeGaT GmbH in Germany. BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, CRX, CRB1, RP1L1, IMPG2, RDH12, FSCN2, C1QTNF5, CLN3, TIMP3, MFSD8, TTLL5, CTNNA1, DRAM2 , (...) View the complete list with 2 more genes Panel GTR000522487 complete gene list BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, CRX, CRB1, RP1L1, IMPG2, RDH12, FSCN2, C1QTNF5, CLN3, TIMP3, MFSD8, TTLL5, CTNNA1, DRAM2, IMPG1, CDH3 Specificity 10 % Genes 29 %
Single gene testing CNGB3. By CeGaT GmbH in Germany. CNGB3 Specificity 100 % Genes 15 %
Stargardt Disease, Cone-Rod Dystrophy. By Asper Biogene Asper Biogene LLC in Estonia. ELOVL4, ABCA4, CNGB3, PROM1 Specificity 25 % Genes 15 %
Autosomal Recessive Retinitis Pigmentosa. By Asper Biogene Asper Biogene LLC in Estonia. ZNF513, AIPL1, BEST1, RP1, ABCA4, CNGB3, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...) View the complete list with 36 more genes Panel GTR000507298 complete gene list ZNF513, AIPL1, BEST1, RP1, ABCA4, CNGB3, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, GRK1, LRAT, RDH12, PRCD, SEMA4A, TOPORS, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, CNGA3, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1 Specificity 6 % Genes 43 %
CNGB3-Related Stargardt Disease 1. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. CNGB3 Specificity 100 % Genes 15 %
CNGB3 single gene sequencing. By Molecular Vision Laboratory in United States. CNGB3 Specificity 100 % Genes 15 %
Family Prep Screen. By Counsyl in United States. F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...) View the complete list with 90 more genes Panel GTR000552033 complete gene list F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4, CPT2, GNE, CNGB3, CLRN1, PCDH15, DLD, HADHA, OPA3, SMPD1, SLC26A4, RS1, FAH, G6PC, MPI, HEXA, ALDH3A2, CTSK, PAH, AGXT, CPT1A, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, TPP1, CLN3, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, IDUA, NPC1, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, TTPA, ABCC8, CLN5, LAMC2, PKHD1, DPYD, TMEM216, CYP21A2, VPS13B, MEFV, F11, HGD, BCHE Specificity 1 % Genes 15 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3 Specificity 1 % Genes 29 %
STARGARDT SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, CDH3 Specificity 16 % Genes 29 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCA1B, RDH12, FSCN2, TIMP3, EFEMP1, CDH3, RBP4 Specificity 14 % Genes 29 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...) View the complete list with 127 more genes Panel GTR000523283 complete gene list FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, MECP2, SLC26A4, RS1, FAH, G6PC, MPI, OTC, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, GLA, IDS, IDUA, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, G6PD, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, VWF, F9, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 Specificity 1 % Genes 15 %
Eye Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...) View the complete list with 118 more genes Panel GTR000506412 complete gene list ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, KCNJ13, NPHP3, NPHP1, MKKS, CEP290, TRIM32, NPHP4, PCDH15, PRPH2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, MERTK, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, RGS9, CERKL, FSCN2, LCA5, RIMS1, EYS, GUCA1A, PITPNM3, CA4, PRPF31, PRPF8, RP2, TIMM8A, BCOR, PHYH, OAT, GRM6, CYP4V2, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CLN3, RP9, MYOC, TIMP3, EFEMP1, PAX2, NR2E3, PRPF3, RBP3, ROM1, MTTP, PEX2, PEX7, PEX1, TTPA, AHI1, TREX1, COL9A1, COL11A1, UNC119, RAX2, CNNM4, CDH3, HMCN1, RBP4, RPGRIP1L, VSX2, VCAN, RGS9BP Specificity 3 % Genes 43 %
Cone-Rod Dystrophy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, RPGRIP1, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3 , (...) View the complete list with 4 more genes Panel GTR000509370 complete gene list AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, RPGRIP1, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, RAX2, CNNM4 Specificity 9 % Genes 29 %
Macular Degeneration NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. FBLN5, TLR4, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, EFEMP1, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, CX3CR1 Specificity 10 % Genes 29 %
CNGB3. By Fulgent Genetics Fulgent Genetics in United States. CNGB3 Specificity 100 % Genes 15 %
Macular Dystrophy Panel. By Blueprint Genetics in Finland. BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, PROM1, CRX, CRB1, RS1, RP1L1, IMPG2, RDH12, CERKL, C1QTNF5, TIMP3, RDH5, EFEMP1, MFSD8 , (...) View the complete list with 6 more genes Panel GTR000552824 complete gene list BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, PROM1, CRX, CRB1, RS1, RP1L1, IMPG2, RDH12, CERKL, C1QTNF5, TIMP3, RDH5, EFEMP1, MFSD8, RAX2, CTNNA1, DRAM2, IMPG1, CDH3, PRDM13 Specificity 8 % Genes 29 %
Achromatopsia type 3. By Bioarray in Spain. CNGB3 Specificity 100 % Genes 15 %
STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS). By Laboratorio de Genetica Clinica SL in Spain. ABCA4, CNGB3 Specificity 50 % Genes 15 %
Autosomal Recessive Achromatopsia , Sequencing CNGB3 Gene. By Reference Laboratory Genetics in Spain. CNGB3 Specificity 100 % Genes 15 %
Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. ELOVL4, ABCA4, CNGB3, PRPH2, PROM1 Specificity 20 % Genes 15 %
Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes. By Reference Laboratory Genetics in Spain. BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, CDH3 Specificity 9 % Genes 15 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...) View the complete list with 116 more genes Panel GTR000560383 complete gene list HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, SLC26A4, FAH, G6PC, MPI, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, CLN8, LAMB3, FKTN, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 Specificity 1 % Genes 15 %
Achromatopsia 2 - CNGA3 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. CNGA3 Specificity 100 % Genes 15 %
CNGA3. By Institute for Human Genetics University Clinic Freiburg in Germany. CNGA3 Specificity 100 % Genes 15 %
CNGA3 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CNGA3 Specificity 100 % Genes 15 %
CNGA3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CNGA3 Specificity 100 % Genes 15 %
Achromatopsia 2 (sequence analysis of CNGA3 gene). By CGC Genetics in Portugal. CNGA3 Specificity 100 % Genes 15 %
Achromatopsia (ACHM) via CNGA3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CNGA3 Specificity 100 % Genes 15 %
Leber congenital amaurosis and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...) View the complete list with 12 more genes Panel GTR000559212 complete gene list AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200, IQCB1, LCA5, MYO7A, CNGA3, ALMS1, RDH5, ROM1, NMNAT1, DTHD1, CLUAP1, GDF6, IFT140 Specificity 4 % Genes 15 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...) View the complete list with 12 more genes Panel GTR000559238 complete gene list AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200, IQCB1, LCA5, MYO7A, CNGA3, ALMS1, RDH5, ROM1, NMNAT1, DTHD1, CLUAP1, GDF6, IFT140 Specificity 4 % Genes 15 %
Leber congenital amaurosis and related disorders NGS panel. By Connective Tissue Gene Tests in United States. AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...) View the complete list with 12 more genes Panel GTR000559247 complete gene list AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200, IQCB1, LCA5, MYO7A, CNGA3, ALMS1, RDH5, ROM1, NMNAT1, DTHD1, CLUAP1, GDF6, IFT140 Specificity 4 % Genes 15 %
Achromatopsia type 2. By Centogene AG - the Rare Disease Company in Germany. CNGA3 Specificity 100 % Genes 15 %
Single gene testing CNGA3. By CeGaT GmbH in Germany. CNGA3 Specificity 100 % Genes 15 %
CNGA3-Achromatopsia 2. By GGA - Galil Genetic Analysis in Israel. CNGA3 Specificity 100 % Genes 15 %
CNGA3 single gene sequencing. By Molecular Vision Laboratory in United States. CNGA3 Specificity 100 % Genes 15 %
CNGA3. By Fulgent Genetics Fulgent Genetics in United States. CNGA3 Specificity 100 % Genes 15 %
Leber Congenital Amaurosis Panel. By Blueprint Genetics in Finland. AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, MYO7A, CNGA3 , (...) View the complete list with 6 more genes Panel GTR000552798 complete gene list AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, MYO7A, CNGA3, BBS4, ALMS1, RDH5, NMNAT1, DTHD1, CWC27 Specificity 4 % Genes 15 %
Achromatopsia type 2. By Bioarray in Spain. CNGA3 Specificity 100 % Genes 15 %
Achromatopsia Type 2 , Sequencing CNGA3 Gene. By Reference Laboratory Genetics in Spain. CNGA3 Specificity 100 % Genes 15 %
RPGR Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 15 %
RPGR Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 15 %
RPGR Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 15 %
RPGR Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. RPGR Specificity 100 % Genes 15 %
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...) View the complete list with 73 more genes Panel GTR000556317 complete gene list INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, SMAD4, ENG, SERPINA1, SLC7A7, RTEL1, SCNN1A, SCNN1G, SCNN1B, OFD1, EDN3, DKC1, BLOC1S6, TERC, ACVRL1, BMPR1B, DNAH8, ELMOD2, DNAH1, MCIDAS, TERT, SFTPD, TTC25, DNAJB13, GAS8, RSPH3, PARN, CENPF, CCDC151, CCNO, DOCK8, GDF2, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, EFEMP2, CSF2RB, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1 Specificity 2 % Genes 15 %
Retinitis Pigmentosa Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...) View the complete list with 72 more genes Panel GTR000556332 complete gene list ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, RD3, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, C1QTNF5, LCA5, EYS, CA4, PRPF31, PRPF8, RP2, HK1, CYP4V2, BBS1, BBS2, CLN3, RP9, MAK, NR2E3, PRPF3, ROM1, POMGNT1, OFD1, MVK, IFT140, DHX38, SPP2, ARL3, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP Specificity 2 % Genes 15 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. INVS, RPGR, CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65 , (...) View the complete list with 22 more genes Panel GTR000556372 complete gene list INVS, RPGR, CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1 Specificity 3 % Genes 15 %
Ciliopathies. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1 , (...) View the complete list with 73 more genes Panel GTR000552165 complete gene list VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, PKD2, OFD1, WDR35, NODAL, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, GDF1, GATA4, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2 Specificity 2 % Genes 15 %
RPGR. By Institute for Human Genetics University Clinic Freiburg in Germany. RPGR Specificity 100 % Genes 15 %
PulmoGene Panel (64 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...) View the complete list with 44 more genes Panel GTR000509127 complete gene list FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, NF1, SCNN1A, SCNN1G, SCNN1B, EDN3, BLOC1S6, TERC, ACVRL1, ELMOD2, TERT, SFTPD, DOCK8, RSPH1, SMAD9, CSF2RA, EFEMP2, CSF2RB, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1, BDNF, ASCL1, GDNF Specificity 2 % Genes 15 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. AIPL1, BEST1, SPATA7, RP1, ABCA4, CEP290, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D , (...) View the complete list with 33 more genes Panel GTR000501118 complete gene list AIPL1, BEST1, SPATA7, RP1, ABCA4, CEP290, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, CNGA1, NRL, CDHR1, PCARE, LRAT, KLHL7, RDH12, RD3, PRCD, SNRNP200, SEMA4A, TOPORS, CERKL, FSCN2, LCA5, EYS, CA4, PRPF31, PRPF8, RP2, RP9, NR2E3, PRPF3, ROM1 Specificity 2 % Genes 15 %
PCDNext. By Ambry Genetics in United States. RPGR, CCDC39, CFTR, OFD1, SPAG1, ARMC4, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5 , (...) View the complete list with 1 more genes Panel GTR000560619 complete gene list RPGR, CCDC39, CFTR, OFD1, SPAG1, ARMC4, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1 Specificity 5 % Genes 15 %
RPGR mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. RPGR Specificity 100 % Genes 15 %
RPGR. Sequencing of the exon ORF15. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RPGR Specificity 100 % Genes 15 %
RPGR. Sequencing of the exons 1-15. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RPGR Specificity 100 % Genes 15 %
Primary Ciliary Dyskinesia Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114 , (...) View the complete list with 17 more genes Panel GTR000553461 complete gene list INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, DNAH6, HYDIN Specificity 3 % Genes 15 %
Primary Ciliary Dyskinesia Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114 , (...) View the complete list with 17 more genes Panel GTR000553475 complete gene list INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, DNAH6, HYDIN Specificity 3 % Genes 15 %
Comprehensive Pulmonary-Vascular Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...) View the complete list with 45 more genes Panel GTR000553478 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN Specificity 2 % Genes 15 %
Comprehensive Pulmonary-Vascular Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...) View the complete list with 44 more genes Panel GTR000553479 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN Specificity 2 % Genes 15 %
Primary Ciliary Dyskinesia Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114 , (...) View the complete list with 17 more genes Panel GTR000553487 complete gene list INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, DNAH6, HYDIN Specificity 3 % Genes 15 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...) View the complete list with 44 more genes Panel GTR000553502 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN Specificity 2 % Genes 15 %
Cone-rod dystrophy, X-linked (sequence analysis of exon 15a of RPGR gene). By CGC Genetics in Portugal. RPGR Specificity 100 % Genes 15 %
Retinitis pigmentosa 3 (sequence analysis of RPGR gene). By CGC Genetics in Portugal. RPGR Specificity 100 % Genes 15 %
Retinitis pigmentosa (NGS panel for 72 genes). By CGC Genetics in Portugal. ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...) View the complete list with 52 more genes Panel GTR000525246 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, CYP4V2, BBS1, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GNPTG, DHX38, RBP4, PRPF4, NEK2, ARL2BP, ADGRA3, KIAA1549, ECM1, TUB, RDH11 Specificity 2 % Genes 15 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes). By CGC Genetics in Portugal. ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...) View the complete list with 33 more genes Panel GTR000525283 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, RP2, CYP4V2, BBS1, MAK, NR2E3, RBP3, NMNAT1, GNPTG, DHX38, RBP4, EMC1, NEK2, ARL2BP, ADGRA3, KIAA1549, TUB, RDH11 Specificity 2 % Genes 15 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes). By CGC Genetics in Portugal. BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...) View the complete list with 7 more genes Panel GTR000525285 complete gene list BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, RP2, RP9, NR2E3, PRPF3, ROM1, PRPF4 Specificity 4 % Genes 15 %
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 15 %
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHM, RPGR, RP2, OFD1 Specificity 25 % Genes 15 %
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 15 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...) View the complete list with 60 more genes Panel GTR000531410 complete gene list ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, RD3, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, C1QTNF5, LCA5, EYS, PITPNM3, CA4, PRPF31, PRPF8, RP2, CLN3, MAK, NR2E3, PRPF3, RBP3, ROM1, OFD1, EMC1, SLC7A14, ARL2BP, ADGRA3, KIAA1549, PLA2G5 Specificity 2 % Genes 15 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4 , (...) View the complete list with 20 more genes Panel GTR000505674 complete gene list INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, AK7, PIH1D3 Specificity 3 % Genes 15 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9 , (...) View the complete list with 73 more genes Panel GTR000505776 complete gene list INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TMEM216, AHI1, OFD1, DCDC2, TMEM231, NODAL, FOXH1, DNAH8, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, GDF1, CEP41, CPLANE1, GLIS2, ARL13B, LEFTY2, ACVR2B, B9D2, CFAP53, TCTN3, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6 Specificity 2 % Genes 15 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. INVS, RPGR, CCDC39, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10 , (...) View the complete list with 19 more genes Panel GTR000552103 complete gene list INVS, RPGR, CCDC39, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, AK7, PIH1D3 Specificity 3 % Genes 15 %
Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region. By PreventionGenetics PreventionGenetics in United States. RPGR Specificity 100 % Genes 15 %
Retinitis pigmentosa type 3 X-linked. By Centogene AG - the Rare Disease Company in Germany. RPGR Specificity 100 % Genes 15 %
X-linked retinitis pigmentosa. By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom. RPGR Specificity 100 % Genes 15 %
Primary Ciliary Dyskinesia Panel. By CeGaT GmbH in Germany. RPGR, CCDC39, OFD1, DNAH8, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5 , (...) View the complete list with 14 more genes Panel GTR000522398 complete gene list RPGR, CCDC39, OFD1, DNAH8, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, HYDIN Specificity 3 % Genes 15 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel. By CeGaT GmbH in Germany. BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...) View the complete list with 10 more genes Panel GTR000522413 complete gene list BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, RP2, HK1, RP9, NR2E3, PRPF3, ROM1, SPP2, ARL3, PRPF4 Specificity 4 % Genes 15 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel. By CeGaT GmbH in Germany. ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK , (...) View the complete list with 42 more genes Panel GTR000522426 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, PRPF31, RP2, HGSNAT, CYP4V2, BBS1, BBS2, MAK, NR2E3, RBP3, NMNAT1, GNPTG, DHX38, RBP4, EMC1, ZNF408, KIZ, SLC7A14, NEK2, ARL2BP, IFT172, ADGRA3, KIAA1549, TUB, RDH11 Specificity 2 % Genes 15 %
Single gene testing RPGR. By CeGaT GmbH in Germany. RPGR Specificity 100 % Genes 15 %
X-Linked Retinitis Pigmentosa (includes RPGR ORF15). By Asper Biogene Asper Biogene LLC in Estonia. RPGR, RP2, OFD1 Specificity 34 % Genes 15 %
X-Linked RP Panel. By Molecular Vision Laboratory in United States. CHM, RPGR, RS1, RP2, OFD1 Specificity 20 % Genes 15 %
VECMD. By VECMD VECMD in Mexico. RPGR Specificity 100 % Genes 15 %
Retinitis pigmentosa 3. By Praxis fuer Humangenetik Wien in Austria. RPGR Specificity 100 % Genes 15 %
RPGR. By Division Human Genetics Medical University Innsbruck in Austria. RPGR Specificity 100 % Genes 15 %
Retinitis pigmentosa 3. By MedGene in Slovakia. RPGR Specificity 100 % Genes 15 %
Invitae Congenital Heart Defects and Heterotaxy Panel. By Invitae in United States. INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...) View the complete list with 62 more genes Panel GTR000528542 complete gene list INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NSD1, GPC3, NF1, OFD1, TBX1, NODAL, FOXH1, NOTCH1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, ACTC1, NKX2-5, TBX5, GJA1, ZIC3, NEK8, GDF1, GATA4, LEFTY2, ACVR2B, CFAP53, NOTCH2, ZNF423, ANKS6, MED13L, NR2F2, NKX2-6, MEIS2 Specificity 2 % Genes 15 %
Invitae Primary Ciliary Dyskinesia Panel. By Invitae in United States. RPGR, CCDC39, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6 , (...) View the complete list with 14 more genes Panel GTR000514953 complete gene list RPGR, CCDC39, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1 Specificity 3 % Genes 15 %
Invitae Ciliopathies Panel. By Invitae in United States. INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...) View the complete list with 82 more genes Panel GTR000514989 complete gene list INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, MRE11, PKHD1, TMEM216, AHI1, PKD2, OFD1, DCDC2, TMEM231, KIAA0586, WDR35, IFT140, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, WDR19, WDPCP, SDCCAG8, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, IFT122, B9D2, TCTN3, IFT172, CEP104, CEP120, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, NEK1, WDR60, WDR34 Specificity 1 % Genes 15 %
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 15 %
RETINITIS PIGMENTOSA A.R.. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...) View the complete list with 21 more genes Panel GTR000531444 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, RP2, BBS1, MAK, NR2E3, RBP3, GNPTG Specificity 3 % Genes 15 %
RETINITIS PIGMENTOSA A.D. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...) View the complete list with 7 more genes Panel GTR000531491 complete gene list BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, RP2, RP9, NR2E3, PRPF3, ROM1 Specificity 4 % Genes 15 %
RETINITIS PIGMENTOSA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...) View the complete list with 37 more genes Panel GTR000531585 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, BBS1, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, GNPTG Specificity 2 % Genes 15 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RPGR Specificity 100 % Genes 15 %
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RPGR Specificity 100 % Genes 15 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1 , (...) View the complete list with 44 more genes Panel GTR000512407 complete gene list ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, C1QTNF5, EYS, CA4, PRPF31, PRPF8, RP2, BBS1, CLN3, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, OFD1, RBP4 Specificity 2 % Genes 15 %
Ciliopathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...) View the complete list with 92 more genes Panel GTR000512415 complete gene list VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, AHI1, ATXN10, UMOD, SCNN1A, SCNN1G, SCNN1B, PKD2, OFD1, TMEM231, WDR35, NODAL, FOXH1, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, GDF1, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, LEFTY2, CRELD1, ACVR2B, B9D2, CEP164, ZNF423, DYNC2H1, NEK1, HYLS1 Specificity 1 % Genes 15 %
Ciliopathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...) View the complete list with 76 more genes Panel GTR000558619 complete gene list VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, AHI1, ATXN10, UMOD, PKD2, OFD1, WDR35, NODAL, FOXH1, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, IFT80, GLIS2, ARL13B, EVC, EVC2, B9D2, DYNC2H1, NEK1, HYLS1 Specificity 2 % Genes 15 %
Ciliopathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...) View the complete list with 75 more genes Panel GTR000505731 complete gene list VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, CFTR, PKHD1, TMEM216, AHI1, ATXN10, UMOD, PKD2, OFD1, WDR35, NODAL, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, IFT80, GLIS2, ARL13B, EVC, EVC2, B9D2, DYNC2H1, NEK1, HYLS1 Specificity 2 % Genes 15 %
Retinitis Pigmentosa NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...) View the complete list with 68 more genes Panel GTR000509465 complete gene list ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, IQCB1, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, PHYH, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, PEX2, PEX7, PEX1, PEX26, GNPTG, RPGRIP1L Specificity 2 % Genes 15 %
RPGR. By Fulgent Genetics Fulgent Genetics in United States. RPGR Specificity 100 % Genes 15 %
X-chromosome High Resolution microarray analysis. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...) View the complete list with 140 more genes Panel GTR000507942 complete gene list ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, IL2RG, AR, ARX, CDKL5, DMD, GLA, IDS, IKBKG, PCDH19, PLP1, PORCN, POU3F4, SRY, HDAC8, G6PD, CYBB, WAS, BTK, GJB1, UBA1, NR0B1, SHOX, ANOS1, AVPR2, COL4A5, L1CAM, FHL1, UBQLN2, MTM1, EMD, SLC35A2, ALG13, DCX, PQBP1, FLNA, SRPX2, WDR45, PIGA, OFD1, SMS, ATRX, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, RAB39B, PRPS1, SMPX, MID1, MED12, AP1S2, NLGN4X, NLGN3, GATA1, PHF8, IGBP1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, ZC4H2, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KDM6A, CSF2RA, PGK1, SH2D1A, EFNB1, F9, F8, ZIC3, XIAP, XK, EDA, CCNQ, ARSE, MAMLD1, ZNF674, IGSF1, CLCN5, ATP2B3, STS, POLA1, CFP, AMELX, TRAPPC2, VMA21, CHRDL1, COX7B, TBX22, SLC6A14, SAT1, SERPINA7 Specificity 1 % Genes 15 %
Primary Ciliary Dyskinesia Panel. By Blueprint Genetics in Finland. INVS, RPGR, CCDC39, CFTR, OFD1, DNAH1, GAS8, RSPH3, CENPF, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6 , (...) View the complete list with 16 more genes Panel GTR000552707 complete gene list INVS, RPGR, CCDC39, CFTR, OFD1, DNAH1, GAS8, RSPH3, CENPF, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, HYDIN, PIH1D3 Specificity 3 % Genes 15 %
Retinitis Pigmentosa Panel. By Blueprint Genetics in Finland. ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...) View the complete list with 90 more genes Panel GTR000552739 complete gene list ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, PDE6A, RGR, CNGB1, RS1, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, C1QTNF5, LCA5, RIMS1, EYS, PITPNM3, CA4, PRPF31, PRPF8, RP2, PHYH, OAT, HGSNAT, HK1, CYP4V2, BBS1, BBS2, CLN3, RDH5, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, PEX2, PEX7, PEX1, TTPA, AHI1, OFD1, VPS13B, MVK, GNPTG, CFAP410, IFT140, CTNNA1, DHX38, SPP2, RBP4, AGBL5, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, CWC27, ARHGEF18, SAMD11, PLA2G5, TUB, REEP6 Specificity 1 % Genes 15 %
X-linked Retinitis pigmentosa. By Bioarray in Spain. RPGR Specificity 100 % Genes 15 %
RETINITIS PIGMENTOSA (X-LINKED). By Laboratorio de Genetica Clinica SL in Spain. RPGR, RP2 Specificity 50 % Genes 15 %
Cone Rod Distrophy Type 1 , Sequencing RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 15 %
Retinitis Pigmentosa, Sequencing RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 15 %
Cone-Rod Dystrophy Type 1, Sequencing Exons (1-19) and ORF15 RPGR Gene. By Reference Laboratory Genetics in Spain. RPGR Specificity 100 % Genes 15 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes. By Reference Laboratory Genetics in Spain. ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...) View the complete list with 21 more genes Panel GTR000559529 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, RP2, BBS1, MAK, NR2E3, RBP3, GNPTG Specificity 3 % Genes 15 %
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes. By Reference Laboratory Genetics in Spain. BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...) View the complete list with 7 more genes Panel GTR000559653 complete gene list BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, RP2, RP9, NR2E3, PRPF3, ROM1 Specificity 4 % Genes 15 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes. By Reference Laboratory Genetics in Spain. ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...) View the complete list with 37 more genes Panel GTR000559847 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, BBS1, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, GNPTG Specificity 2 % Genes 15 %
Single gene testing ATF6. By CeGaT GmbH in Germany. ATF6 Specificity 100 % Genes 15 %
ATF6. By Fulgent Genetics Fulgent Genetics in United States. ATF6 Specificity 100 % Genes 15 %
Achromatopsia - PDE6C Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. PDE6C Specificity 100 % Genes 15 %
PDE6C. By Institute for Human Genetics University Clinic Freiburg in Germany. PDE6C Specificity 100 % Genes 15 %
PDE6C. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PDE6C Specificity 100 % Genes 15 %
Achromatopsia 2 (sequence analysis of PDE6C gene). By CGC Genetics in Portugal. PDE6C Specificity 100 % Genes 15 %
Achromatopsia via the PDE6C Gene. By PreventionGenetics PreventionGenetics in United States. PDE6C Specificity 100 % Genes 15 %
Cone-rod dystrophy type 4. By Centogene AG - the Rare Disease Company in Germany. PDE6C Specificity 100 % Genes 15 %
Single gene testing PDE6C. By CeGaT GmbH in Germany. PDE6C Specificity 100 % Genes 15 %
PDE6C. By Fulgent Genetics Fulgent Genetics in United States. PDE6C Specificity 100 % Genes 15 %
Cone dystrophy type 4. By Bioarray in Spain. PDE6C Specificity 100 % Genes 15 %
Achromatopsia. By Bioarray in Spain. PDE6C Specificity 100 % Genes 15 %

Alternate names

Achromatopsia 2; Achm2 Is also known as colorblindness, total, rod monochromatism 2, rod monochromacy 2;rmch2;achm; complete or incomplete color blindness; pingelapese blindness; rod monochromacy; rod monochromatism; total color blindness.

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