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Panel Name, Specifity and genes Tested/covered |
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).
By CGC Genetics (Portugal).
BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
Genes
100 %
|
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).
By CGC Genetics (Portugal).
BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
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 - panels.
By MGZ Medical Genetics Center (Germany).
BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)
View the complete list with 146 more genes
BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM, VSX1, WFS1, ZIC2, ACTB, ADAMTS10, ATOH7, RAB18, ACTG1, FYCO1, PXDN, CBS, JAM3, OVOL2, TBC1D20, CHMP4B, SLC4A11, SLC45A2, MFN2, RAB3GAP1, ADAMTS17, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, P3H2, KIF21A, ADAMTSL4, VSX2, GPR143, B3GLCT, SMOC1, NDUFB11, SLC24A5, CHD7, TUBB3, BCOR, ADAMTS2, VPS13B, COL11A1, COL11A2, COL17A1, COL18A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, SLC16A12, CYP4V2, ZNF469, LRMDA, PIKFYVE, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, TMEM98, FAM126A, SIL1, VCAN, CTDP1, TMEM126A, FREM2, MTPAP, CYP1B1, CYP27A1, AGBL1, C12orf65, DCN, EPG5, C12orf57, TENM3, STRA6, UBIAD1, TUBB2B, TDRD7, MIR184, SLC38A8, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FBN1, FOXC1, FOXE3, PRSS56, FTL, FZD4, ALDH1A3, GALK1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLA, GSN, ABCB6, HCCS, HESX1, HMX1, HSF4, KRT3, LIM2, LRP2, LRP5, LTBP2, MAB21L2, MAF, PHOX2A, CHST6, MIP, ASPH, MYH9, MYOC, NDP, NHS, FRMD7, OCA2, OCRL, OPA1, OPA3, OTX2, PAX2, PAX6, PITX2, PRDM5, SLC33A1, RARB
Specificity
1 %
Genes
100 %
|
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).
By MGZ Medical Genetics Center (Germany).
SALL2, BMP4, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, TGIF1, VAX1, ZIC2, RAB18, TBC1D20, RAB3GAP1, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, VSX2 , (...)
View the complete list with 28 more genes
SALL2, BMP4, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, TGIF1, VAX1, ZIC2, RAB18, TBC1D20, RAB3GAP1, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, VSX2, SMOC1, CHD7, BCOR, VPS13B, CRYBA4, FREM2, CYP1B1, C12orf57, TENM3, STRA6, ERCC1, ERCC2, ERCC5, ERCC6, PRSS56, ALDH1A3, GDF3, GDF6, GJA1, ABCB6, HCCS, HESX1, HMX1, MAB21L2, NDP, OCRL, OTX2, PAX2
Specificity
3 %
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 %
|
Developmental Eye Disease panel.
By Molecular Vision Laboratory (United States).
BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10 , (...)
View the complete list with 39 more genes
BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10, POMT2, VSX2, B3GLCT, DCDC1, CHD7, BCOR, COL4A1, COX7B, CRX, TMEM98, CYP1B1, C12orf57, TENM3, STRA6, FKTN, ISPD, FOXC1, FOXC2, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HESX1, HMGB3, HMX1, LAMB2, LARGE1, LHX2, MAB21L2, NDP, OTX2, PAX2, PAX6, PITX2, PITX3, POMT1, RARB
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 %
|
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