Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
| 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 %
|
 KIZ.
By Institute for Human Genetics University Clinic Freiburg (Germany).
KIZ
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 %
|
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via KIZ Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
KIZ
Specificity
100 %
Genes
100 %
|
Retinitis pigmentosa, autosomal recessive and X-linked Panel.
By CeGaT GmbH (Germany).
RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, TUB, TULP1, USH2A, CLRN1, BEST1, ADGRA3, CDHR1, PRPF31, KIZ, RP1L1, ARL2BP, DHX38, NMNAT1 , (...)
View the complete list with 42 more genes
RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, TUB, TULP1, USH2A, CLRN1, BEST1, ADGRA3, CDHR1, PRPF31, KIZ, RP1L1, ARL2BP, DHX38, NMNAT1, RDH11, IMPG2, RDH12, ZNF408, TTC8, SPATA7, DHDDS, CNGA1, CNGB1, EYS, CERKL, KIAA1549, GNPTG, CYP4V2, CRB1, FLVCR1, FAM161A, ZNF513, HGSNAT, C8orf37, EMC1, SLC7A14, IFT172, PRCD, ABCA4, PCARE, IDH3B, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PROM1, BBS1, BBS2, RBP3, RBP4, RGR
Specificity
2 %
Genes
100 %
|
Retinal Dystrophy Panel.
By Molecular Vision Laboratory (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 265 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, IFT81, C1QTNF5, ELOVL4, TMEM237, CDHR1, PCDH15, 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, MFRP, TUBGCP6, RAX2, WDR19, IMPG2, CEP250, IFT27, RTN4IP1, BBS7, NPHP4, HMCN1, CHM, RD3, KCNV2, TTLL5, RDH12, ZNF408, TTC8, CACNA2D4, SPATA7, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, PITPNM3, INPP5E, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, KCTD7, KIAA1549, PEX26, CYP4V2, ACBD5, CRB1, CRX, B9D1, CISD2, TCTN3, MMACHC, CIB2, VCAN, FLVCR1, LRIT3, TMEM216, CTNNA1, SLC25A46, CTSD, CTSF, RHEX, TMEM126A, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, FAM161A, TCTN1, CSPP1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, TMEM138, C8orf37, WDPCP, BBIP1, TMEM67, MFSD8, DGKQ, B9D2, DRAM2, IQCB1, EMC1, CEP290, IFT140, RPGRIP1L, CEP164, CC2D2A, SLC7A14, BBS9, RGS9BP, IFT172, KIF7, POC1B, SNRNP200, GPR179, MIR204, LCA5, EFEMP1, PRCD, ABCA4, PCARE, AIPL1, TMEM231, DTHD1, FSCN2, FZD4, OPN1MW, GDF6, ALMS1, GJB2, GJB6, GNAT1, GNAT2, AMACR, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCN1, CFH, HK1, HMX1, IDH3B, ABCC6, IMPDH1, IMPG1, ABCD1, ITM2B, JAG1, KCNJ13, KIF11, LAMA1, LRAT, LRP5, LZTFL1, MAK, ARL3, MERTK, MKKS, MKS1, TRPM1, MT-ND1, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTTP, MT-TH, MT-TL1, MT-TV, MVK, MYO7A, NDP, NEK2, NEUROD1, NPHP1, NPHP3, ATF6, NR2E3, NR2F1, NRL, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGK1, PHYH, PLA2G5, PPT1, PROM1, PRPS1, BBS1, BBS2, BBS4, BBS5, PEX19, PEX2, PEX5, RAB28, RBP3, RBP4, OPN1LW, RDH5, PRPH2, RGR
Specificity
1 %
Genes
100 %
|
MVL Vision Panel.
By Molecular Vision Laboratory (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 246 more genes
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1, TIMM8A, TIMP3, TREX1, CEP41, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, WFS1, RPGRIP1, CDH23, CA4, ADGRA3, CABP4, CACNA1F, IFT81, C1QTNF5, ELOVL4, TMEM237, CDHR1, PCDH15, OR2W3, PRPF31, KLHL7, PRPF6, KIZ, PANK2, RP1L1, DNAJC5, PNPLA6, USH1G, WHRN, TRIM32, TUBGCP4, ZNF423, MFN2, DHX38, RIMS1, PRPF8, TRNT1, PRPF3, PRPF4, ADGRV1, CDH3, INVS, NMNAT1, RDH11, MFRP, TUBGCP6, RAX2, WDR19, IMPG2, CEP250, IFT27, RTN4IP1, BBS7, NPHP4, HMCN1, CHM, RD3, KCNV2, TTLL5, RDH12, ZNF408, TTC8, CACNA2D4, SPATA7, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, PITPNM3, INPP5E, CNGA1, CNGA3, CNGB1, CNGB3, EYS, TSPAN12, TOPORS, CERKL, VPS13B, KCTD7, KIAA1549, PEX26, CYP4V2, CRB1, CRX, CISD2, TCTN3, MMACHC, CIB2, VCAN, FLVCR1, LRIT3, TMEM216, CTNNA1, SLC25A46, CTSD, CTSF, RHEX, TMEM126A, TTC21B, OFD1, TCTN2, CPLANE1, FAM161A, TCTN1, CSPP1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, TMEM138, C8orf37, WDPCP, BBIP1, TMEM67, MFSD8, DGKQ, DRAM2, IQCB1, EMC1, CEP290, IFT140, RPGRIP1L, CEP164, CC2D2A, SLC7A14, BBS9, RGS9BP, IFT172, KIF7, POC1B, SNRNP200, GPR179, MIR204, LCA5, EFEMP1, PRCD, PCARE, TMEM231, DTHD1, FSCN2, FZD4, OPN1MW, GDF6, GJB2, GJB6, GNAT1, GNAT2, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCN1, CFH, HK1, HMX1, IDH3B, IMPDH1, IMPG1, ITM2B, JAG1, KCNJ13, KIF11, LAMA1, LRAT, LRP5, LZTFL1, MAK, MERTK, MKKS, MKS1, TRPM1, MT-ND1, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTTP, MT-TH, MT-TL1, MT-TV, MVK, MYO7A, NDP, NEK2, NEUROD1, NPHP1, NPHP3, NR2E3, NR2F1, NRL, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGK1, PHYH, PLA2G5, PPT1, PROM1, PRPS1, BBS1, BBS2, BBS4, BBS5, PEX19, PEX2, PEX5, RAB28, RBP3, RBP4, OPN1LW, RDH5, PRPH2, RGR
Specificity
1 %
Genes
100 %
|
KIZ.
By Fulgent Genetics Fulgent Genetics (United States).
KIZ
Specificity
100 %
Genes
100 %
|
You can check the following sources for additional information.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
RENAL TUBULAR DYSGENESIS; RTD
Retinitis Pigmentosa 69; Rp69