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Panel Name, Specifity and genes Tested/covered |
Microcornea, myopic chorioretinal atrophy and telecanthus (sequence analysis of ADAMTS18 gene).
By CGC Genetics (Portugal).
ADAMTS18
Specificity
100 %
Genes
100 %
|
Microcornea, myopic chorioretinal atrophy and telecanthus (sequence analysis of ADAMTS18 gene).
By CGC Genetics (Portugal).
ADAMTS18
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 %
|
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 %
|
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 %
|
ADAMTS18.
By Fulgent Genetics Fulgent Genetics (United States).
ADAMTS18
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 %
|
Cone Rod Dystrophy Panel.
By Blueprint Genetics (Finland).
RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, ARHGEF18, ADAMTS18, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, CLN3, PITPNM3, CNGA3 , (...)
View the complete list with 22 more genes
RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, ARHGEF18, ADAMTS18, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, CLN3, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CYP4V2, CRB1, CRX, CEP78, C8orf37, RGS9BP, POC1B, ABCA4, AIPL1, GNAT2, GUCA1A, GUCY2D, MERTK, PDE6C, PDE6H, PROM1, RAB28, RDH5, PRPH2
Specificity
3 %
Genes
100 %
|
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