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Panel Name, Specifity and genes Tested/covered |
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)
View the complete list with 286 more genes
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1, ACO2, TIMM8A, TIMP3, TREX1, CEP41, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, WFS1, ARL6, RPGRIP1, CDH23, CA4, ADGRA3, CABP4, CACNA1F, PRDM13, IFT81, C1QTNF5, ELOVL4, TMEM237, CDHR1, PCDH15, CAPN5, OR2W3, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, PANK2, RP1L1, DNAJC5, PNPLA6, USH1G, WHRN, TRIM32, TUBGCP4, ZNF423, MFN2, ADAMTS18, ARL2BP, DHX38, RIMS1, PRPF8, TRNT1, PRPF3, PRPF4, ADGRV1, CDH3, INVS, NMNAT1, RDH11, CEP83, MFRP, TUBGCP6, SLC4A5, RCBTB1, RAX2, WDR19, IMPG2, CEP250, IFT27, RTN4IP1, BBS7, CLUAP1, NPHP4, HMCN1, CHM, RD3, KCNV2, VSX2, KIAA0586, TTLL5, RDH12, ZNF408, TTC8, CACNA2D4, SPATA7, DHDDS, IFT88, TPP1, CLN3, CLN5, CLN6, CLN8, PITPNM3, INPP5E, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, COL11A2, COL18A1, COL9A1, COL9A2, COL9A3, KIAA1549, PEX26, GNPTG, CYP4V2, ACBD5, CRB1, CRX, ADIPOR1, B9D1, CISD2, TCTN3, MMACHC, CIB2, VCAN, FLVCR1, LRIT3, TMEM216, CTNNA1, CTNNB1, NXNL1, SLC25A46, CTSD, TMEM126A, ARL13B, TTC21B, OFD1, CEP78, TCTN2, CPLANE1, FAM161A, TCTN1, AGBL5, CSPP1, PDZD7, BBS10, CFAP57, ZNF513, HGSNAT, BBS12, C12orf65, TMEM138, C8orf37, WDPCP, BBIP1, TMEM107, TMEM67, MFSD8, B9D2, DRAM2, IQCB1, EMC1, CEP290, IFT140, RPGRIP1L, CEP164, WDR35, CC2D2A, IFT80, SLC7A14, IFT43, BBS9, REEP6, RGS9BP, IFT172, KIF7, POC1B, SNRNP200, GPR179, MIR204, LCA5, EFEMP1, PRCD, ABCA4, PCARE, AIPL1, FBLN5, TMEM231, DTHD1, ISPD, FSCN2, FZD4, GDF6, ALMS1, GJB2, GJB6, GNAT1, GNAT2, AMACR, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCN1, CFH, HK1, HMX1, IDH3A, IDH3B, ABCC6, IMPDH1, IMPG1, ABCD1, ITM2B, JAG1, KCNJ13, KIF11, LAMA1, LARGE1, LRAT, LRP2, LRP5, LZTFL1, MAK, ARL3, MERTK, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, NDP, NEK2, NEUROD1, NPHP1, NPHP3, ATF6, NR2E3, NR2F1, NRL, FRMD7, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGK1, PHYH, PLA2G5, PPT1, PRKCG, PROM1, PRPS1, BBS1, BBS2, BBS4, BBS5, PEX19, PEX2, PEX5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR
Specificity
1 %
Genes
100 %
|
Autosomal Dominant Retinitis Pigmentosa 77 (RP77) via REEP6 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
REEP6
Specificity
100 %
Genes
100 %
|
Retinal Dystrophy Panel.
By Blueprint Genetics (Finland).
RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...)
View the complete list with 239 more genes
RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3, TREX1, CEP41, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, WFS1, ARL6, RPGRIP1, CDH23, CA4, CABP4, ATOH7, CACNA1F, PRDM13, IFT81, C1QTNF5, ELOVL4, TMEM237, CDHR1, PCDH15, CAPN5, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, PANK2, RP1L1, PNPLA6, USH1G, WHRN, TRIM32, ZNF423, MFN2, ARHGEF18, ADAMTS18, ARL2BP, DHX38, RIMS1, PRPF8, PRPF3, PRPF4, ADGRV1, CDH3, INVS, NMNAT1, RDH11, MFRP, RAX2, WDR19, IMPG2, RTN4IP1, BBS7, NPHP4, CHM, RD3, KCNV2, KIAA0586, TTLL5, RDH12, ZNF408, TTC8, CACNA2D4, SPATA7, DHDDS, ARMC9, CLN3, PITPNM3, INPP5E, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, COL18A1, COL9A1, COL9A2, COL9A3, PEX26, GNPTG, CYP4V2, CRB1, CRX, ADIPOR1, B9D1, CISD2, TCTN3, MMACHC, CIB2, VCAN, FLVCR1, LRIT3, CEP104, TMEM216, CTNNA1, CTNNB1, SLC25A46, TMEM126A, ARL13B, TTC21B, OFD1, CEP78, TCTN2, CPLANE1, FAM161A, TCTN1, AGBL5, CTC1, CSPP1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, TMEM138, C8orf37, WDPCP, BBIP1, TMEM107, TMEM67, MFSD8, B9D2, SAMD11, DRAM2, IQCB1, EMC1, CEP290, IFT140, RPGRIP1L, CEP164, CC2D2A, SLC7A14, BBS9, REEP6, RGS9BP, IFT172, KIF7, POC1B, SNRNP200, GPR179, LCA5, EFEMP1, PRCD, ABCA4, PCARE, AIPL1, TMEM231, DTHD1, FZD4, ALMS1, GNAT1, GNAT2, GNB3, GRM6, GUCA1A, GUCY2D, HARS, HK1, HMX1, IDH3B, IMPDH1, IMPG1, JAG1, KCNJ13, KIF11, LRAT, LRP2, LRP5, LZTFL1, MAK, MERTK, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, NDP, NEK2, NPHP1, NPHP3, ATF6, NR2E3, NR2F1, NRL, FRMD7, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PLA2G5, PRKCG, PROM1, PRPS1, BBS1, BBS2, BBS4, BBS5, PEX19, PEX2, PEX5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR
Specificity
1 %
Genes
100 %
|
Retinitis Pigmentosa Panel.
By Blueprint Genetics (Finland).
RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, SAG, CWC27, SEMA4A, SPP2, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1 , (...)
View the complete list with 90 more genes
RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, SAG, CWC27, SEMA4A, SPP2, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, ARHGEF18, ARL2BP, DHX38, RIMS1, PRPF8, PRPF3, PRPF4, NMNAT1, MFRP, WDR19, IMPG2, CHM, RDH12, ZNF408, TTC8, SPATA7, DHDDS, CLN3, PITPNM3, INPP5E, CNGA1, CNGB1, EYS, AHI1, TOPORS, CERKL, VPS13B, GNPTG, CYP4V2, CRB1, CRX, ADIPOR1, FLVCR1, CTNNA1, OFD1, FAM161A, AGBL5, ZNF513, HGSNAT, C8orf37, SAMD11, CEP290, IFT140, SLC7A14, REEP6, SNRNP200, LCA5, PRCD, ABCA4, PCARE, AIPL1, GUCY2D, HK1, IDH3B, IMPDH1, LRAT, MAK, MERTK, MVK, NEK2, NR2E3, NRL, OAT, PDE6A, PDE6B, PDE6G, PEX1, PEX7, PHYH, PLA2G5, PRKCG, PROM1, BBS1, BBS2, PEX2, RBP3, RBP4, RDH5, PRPH2, RGR
Specificity
1 %
Genes
100 %
|
RETINITIS PIGMENTOSA NGS PANEL.
By Laboratorio de Genetica Clinica SL (Spain).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, CDHR1, PRPF31, KLHL7, PRPF6 , (...)
View the complete list with 51 more genes
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, CDHR1, PRPF31, KLHL7, PRPF6, ARHGEF18, PRPF8, PRPF3, PRPF4, MFRP, IMPG2, RDH12, ZNF408, TTC8, SPATA7, DHDDS, CNGA1, CNGB1, EYS, TOPORS, CERKL, GNPTG, CYP4V2, CRB1, CRX, FLVCR1, OFD1, FAM161A, AGBL5, ZNF513, HGSNAT, C8orf37, REEP6, SNRNP200, PRCD, ABCA4, PCARE, AIPL1, FSCN2, GUCA1B, IDH3B, IMPDH1, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, PDE6A, PDE6G, PROM1, BBS1, BBS2, RBP3, PRPH2, RGR
Specificity
2 %
Genes
100 %
|
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