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OphthalmoRef Global®, 523 genes related to ophthalmological diseases

Test Code

57450

Gene/s
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523 gens

Specific Gene

ABCA4, ABCB6, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ACTB, ACVR1, ADAM9, ADAMTS18, ADAMTSL4, ADGRV1, ADIPOR1, AFG3L2, AGBL1, AGBL5, AGK, AHI1, AIPL1, ALDH1A3, ALMS1, AMACR, ANKS6, ANTXR1, AP3B1, ARHGEF18, ARL13B, ARL2BP, ARL6, ARMC9, ASB10, ATF6, ATOH7, ATXN7, AUH, B3GLCT, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BMP7, C12orf57, c12orf65, C19orf12, C1QTNF5, C2CD3, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CAV1, CC2D2A, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CERKL, CFAP410, CFH, CHD7, CHM, CHMP4B, CHN1, CHST6, CIB2, CISD2, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL2A1, COL4A1, COL4A3, COL4A4, COL4A5, COL5A1, COL8A2, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRPPA, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTDP1, CTNNA1, CTNNB1, CTSD, CTSF, CYP1B1, CYP27A1, CYP4V2, DCN, DHDDS, DNAJC5, DNM1L, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, EPG5, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, EYS, FAM126A, FAM161A, FBN1, FGFR1, FLVCR1, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GDF3, GDF6, GFER, GIPC3, GJA1, GJA3, GJA8, GJB2, GJB6, GLI2, GLIS2, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HCN1, HESX1, HGSNAT, HK1, HMCN1, HMX1, HOXA1, HOXB1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, IARS2, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT81, IGBP1, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX5, ITM2B, JAG1, JAM3, KCNJ13, KCNV2, KCTD7, KERA, KIAA0556, KIAA0586, KIF11, KIF21A, KIF7, KIZ, KLHL7, KRT12, KRT3, LAMA1, LCA5, LCAT, LEMD2, LEPREL1, LIM2, LMX1B, LOXHD1, LOXL1, LRAT, LRIT3, LRMDA, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MERTK, MFN2, MFRP, MFSD8, MIP, MIR184, MITF, MKKS, MKS1, MLPH, MMACHC, MSMO1, MTPAP, MTTP, MVK, MYO5A, MYO7A, MYOC, NAA10, NDP, NDUFS1, NEK2, NEK8, NEUROD1, NGLY1, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1SW, OPTN, OTX2, OVOL2, P3H2, PANK2, PAX2, PAX3, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PHOX2A, PHYH, PIGL, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLG, PLK4, PNPLA6, POC1B, POLG, POMGNT1, POMT1, PORCN, PPT1, PQBP1, PRCD, PRDM5, PRKCG, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RECQL4, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SALL2, SALL4, SBF2, SCN2A, SDCCAG8, SEMA3E, SEMA4A, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A46, SLC33A1, SLC38A8, SLC45A2, SLC4A11, SLC4A3, SLC4A4, SLC7A14, SMOC1, SNAI2, SNRNP200, SOX10, SOX2, SOX3, SOX5, SPATA7, SPG7, SRD5A3, STRA6, SUFU, TACSTD2, TBC1D20, TBK1, TCF4, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFBI, TGIF1, TIMM8A, TIMP3, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM98, TMPRSS4, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUBB3, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBIAD1, UCHL1, UNC119, UNC45B, USH1C, USH1G, USH2A, VAX1, VCAN, VHL, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, YAP1, ZEB1, ZIC2, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

5 mL whole blood (EDTA). Necessary clinical and family history.

TAT

30 days

Omim G

Omim F

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