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Panel Name, Specifity and genes Tested/covered |
Retinitis Pigmentosa Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)
View the complete list with 72 more genes
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, RP1L1, ARL2BP, DHX38, PRPF8, PRPF3, PRPF4, MFRP, WDR19, IMPG2, POMGNT1, CHM, RD3, RDH12, ZNF408, TTC8, SPATA7, DHDDS, CLN3, CNGA1, CNGB1, EYS, TOPORS, CERKL, CYP4V2, CRB1, CRX, FLVCR1, OFD1, FAM161A, AGBL5, ZNF513, C8orf37, EMC1, CEP290, IFT140, SLC7A14, SNRNP200, LCA5, PRCD, ABCA4, PCARE, AIPL1, FSCN2, GUCA1B, GUCY2D, HK1, IDH3B, IMPDH1, LRAT, MAK, ARL3, MERTK, MVK, NEK2, NEUROD1, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRKCG, PROM1, BBS1, BBS2, RBP4, PRPH2, RGR
Specificity
2 %
Genes
100 %
|
AGBL5.
By Institute for Human Genetics University Clinic Freiburg (Germany).
AGBL5
Specificity
100 %
Genes
100 %
|
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 %
|
AGBL5.
By Fulgent Genetics Fulgent Genetics (United States).
AGBL5
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 %
|
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).
RHO, RLBP1, RP1, RPE65, SAG, TULP1, USH2A, CLRN1, BEST1, ARL6, ADGRA3, KIZ, ARL2BP, DHX38, TRNT1, IMPG2, POMGNT1, ZNF408, TTC8, SPATA7 , (...)
View the complete list with 35 more genes
RHO, RLBP1, RP1, RPE65, SAG, TULP1, USH2A, CLRN1, BEST1, ARL6, ADGRA3, KIZ, ARL2BP, DHX38, TRNT1, IMPG2, POMGNT1, ZNF408, TTC8, SPATA7, DHDDS, CNGA1, EYS, CERKL, KIAA1549, CYP4V2, CRB1, FAM161A, AGBL5, ZNF513, HGSNAT, C8orf37, EMC1, IFT140, SLC7A14, IFT172, PRCD, ABCA4, PCARE, IDH3B, LRAT, MAK, MERTK, MVK, NEK2, NEUROD1, NR2E3, NRL, PDE6A, PDE6B, PROM1, BBS1, BBS2, RBP3, RGR
Specificity
2 %
Genes
100 %
|
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