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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 %
|
PRPF4.
By Institute for Human Genetics University Clinic Freiburg (Germany).
PRPF4
Specificity
100 %
Genes
100 %
|
Retinitis pigmentosa (NGS panel for 72 genes).
By CGC Genetics (Portugal).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TUB, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, ADGRA3, PRPF31, KLHL7 , (...)
View the complete list with 52 more genes
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TUB, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, ADGRA3, PRPF31, KLHL7, PRPF6, RP1L1, ARL2BP, DHX38, PRPF8, PRPF3, PRPF4, NMNAT1, RDH11, IMPG2, RDH12, TTC8, SPATA7, DHDDS, CNGA1, CNGB1, EYS, TOPORS, CERKL, KIAA1549, GNPTG, CYP4V2, CRB1, CRX, FLVCR1, FAM161A, ZNF513, C8orf37, SNRNP200, ECM1, PRCD, ABCA4, PCARE, FSCN2, GUCA1B, IDH3B, IMPDH1, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PROM1, BBS1, RBP3, RBP4, PRPH2, RGR
Specificity
2 %
Genes
100 %
|
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).
By CGC Genetics (Portugal).
RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, BEST1, CA4, PRPF31, KLHL7, PRPF6, PRPF8, PRPF3, PRPF4, RDH12, TOPORS, CRX, SNRNP200 , (...)
View the complete list with 7 more genes
RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, BEST1, CA4, PRPF31, KLHL7, PRPF6, PRPF8, PRPF3, PRPF4, RDH12, TOPORS, CRX, SNRNP200, FSCN2, GUCA1B, IMPDH1, NR2E3, NRL, PRPH2, RGR
Specificity
4 %
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 %
|
Retinitis pigmentosa, autosomal dominant and X-linked Panel.
By CeGaT GmbH (Germany).
RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SPP2, BEST1, CA4, PRPF31, KLHL7, PRPF6, PRPF8, PRPF3, PRPF4, RDH12, TOPORS, CRX , (...)
View the complete list with 10 more genes
RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SPP2, BEST1, CA4, PRPF31, KLHL7, PRPF6, PRPF8, PRPF3, PRPF4, RDH12, TOPORS, CRX, SNRNP200, FSCN2, GUCA1B, HK1, IMPDH1, ARL3, NR2E3, NRL, PRPH2, RGR
Specificity
4 %
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 %
|
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