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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 %
|
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, AR and X-linked (NGS panel for 53 genes).
By CGC Genetics (Portugal).
RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, TUB, TULP1, USH2A, BEST1, ADGRA3, RP1L1, ARL2BP, DHX38, NMNAT1, RDH11, IMPG2, RDH12, TTC8 , (...)
View the complete list with 33 more genes
RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, TUB, TULP1, USH2A, BEST1, ADGRA3, RP1L1, ARL2BP, DHX38, NMNAT1, RDH11, IMPG2, RDH12, TTC8, SPATA7, DHDDS, CNGA1, CNGB1, EYS, CERKL, KIAA1549, GNPTG, CYP4V2, CRB1, FLVCR1, FAM161A, ZNF513, C8orf37, EMC1, PRCD, ABCA4, PCARE, IDH3B, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PROM1, BBS1, RBP3, RBP4, RGR
Specificity
2 %
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 %
|
Congenital Stationary Night Blindness Panel.
By CeGaT GmbH (Germany).
RHO, GRK1, SAG, SLC24A1, CABP4, CACNA1F, CACNA2D4, LRIT3, GPR179, GNAT1, GRM6, TRPM1, NYX, PDE6B, RBP4
Specificity
7 %
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 %
|
Microphthalmy Panel.
By CeGaT GmbH (Germany).
BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)
View the complete list with 6 more genes
BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, HMGB3, MAB21L2, OTX2, RARB, RBP4
Specificity
4 %
Genes
100 %
|
Eye diseases comprehensive panel.
By Asper Biogene Asper Biogene LLC (Estonia).
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2 , (...)
View the complete list with 259 more genes
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2, TACSTD2, ZEB1, TEAD1, TGFBI, TIMM8A, TIMP3, TREX1, CEP41, TULP1, TYR, TYRP1, USH1C, CFAP410, USH2A, CLRN1, VAX1, VIM, BEST1, VSX1, WFS1, ARL6, RPGRIP1, CDH23, CA4, CABP4, CACNA1F, C1QTNF5, ELOVL4, TMEM237, CDHR1, FYCO1, PCDH15, PRPF31, JAM3, KLHL7, PRPF6, ABHD12, PANK2, RP1L1, CHMP4B, YAP1, USH1G, WHRN, TRIM32, SLC4A11, SLC45A2, MFN2, ADAMTS18, RIMS1, PRPF8, PRPF3, ADGRV1, CDH3, INVS, NMNAT1, MFRP, GIPC3, RAX2, WDR19, IMPG2, NAA10, GRIP1, BBS7, NPHP4, FRAS1, CHM, RD3, VSX2, TTLL5, RDH12, TTC8, GPR143, CACNA2D4, B3GLCT, SMOC1, SPATA7, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, BCOR, PITPNM3, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, AGK, COL11A2, COL4A1, COL8A2, COL9A1, COL9A2, GNPTG, CYP4V2, ZNF469, FREM1, CRB1, PIKFYVE, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CIB2, VCAN, FLVCR1, CTDP1, TMEM216, CTNNA1, CTSD, TMEM126A, FREM2, ARL13B, C19orf12, TTC21B, OFD1, TCTN2, FAM161A, CYP1B1, TCTN1, PDZD7, BBS10, ZNF513, BBS12, TMEM138, DCN, C8orf37, WDPCP, TMEM67, MFSD8, IQCB1, CEP290, IFT140, RPGRIP1L, ZNF644, CC2D2A, BBS9, RGS9BP, KIF7, STRA6, UBIAD1, TDRD7, POC1B, SNRNP200, GPR179, LCA5, EFEMP1, PRCD, EPHA2, ABCA4, PCARE, AIPL1, PRSS56, FSCN2, FTL, FZD4, GALK1, GALT, OPN1MW, GDF3, GDF6, GFER, GJA1, GJA3, ALMS1, GNAT1, GNAT2, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, ABCB6, HARS, HCCS, CFH, HMX1, HSF4, IDH3B, ABCC6, IMPDH1, IMPG1, ITM2B, JAG1, KCNJ13, KIF11, KRT12, KRT3, LAMA1, LIM2, LRAT, LRP5, LZTFL1, MAK, CHST6, MERTK, MIP, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, MYOC, NDP, NHS, NPHP1, NPHP3, NR2E3, NRL, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PAX6, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX7, PHYH, PITX2, PITX3, PLA2G5, PPT1, PRDM5, PROM1, BBS1, BBS2, BBS4, BBS5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR
Specificity
1 %
Genes
100 %
|
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