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Ophthalmology

Ophthalmology

None

Product Type of test Genes
Detección de deleciones/duplicaciones USH2A
Targeted Exome ABCA4, APOE, ARMS2, BEST1, C2, C3, CFB, CFH, CFHR1, CFHR3, CNGB3, FBLN5, HF1, HMCN1, HTRA1, PLEKHA1
Gene NGS PAX6 
Targeted Exome COL6A1,COL6A2,COL6A3,COL12A1
Targeted Exome CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, GJA3, GJA8, MIP, LIM2, TMEM114, EPHA2, BFSP1, BFSP2, VIM, FVB, HSF4, MAF, PITX3, CHMP4B, NHS, BCOR, CCV,CRYGA, CRYGB, EPHA2, FYCO1, GCNT2 , OPA1 , OTX2, PAX6, SIX1, SIX4, UNC45B, WFS1
Gene NGS CHM 
Targeted Exome AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6/BBS3, B1/BBS9, B9D1, B9D2, BBIP1/BBS18, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, C2CD3, C2orf86/FRITZ/BBS15, C5orf42, CC2D2A, CCDC28B, CEP120, CEP164, CEP290, CEP290/BBS14, CEP41, CEP83, CRB1, CRX, DCDC2, DDX59, DYNC2H1, EVC1, EVC2, GLIS2, GUCY2D, IFT122, IFT140, IFT172, IFT27/BBS19, IFT43, IFT80, IMPDH1, INPP5E, INVS, KCNJ13, KIAAO586, KIF14, KIFT, LCA5, LRAT, LZTFL1/BBS17, MKKS/BBS6, MKS1/BBS13, NEK1, NEK8, NMNAT1, NPHP1, NPHP3, NPHP4, NPHP5, OFD1, RD3, RDH12, RPE65, RPGRIP1L, SDCCAG8/BBS16, SPATA7, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32/BBS11, TTC21B, TTC8/BBS8, TULP1, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZNF423
NGS Panel ABCA4, AIPL1, CRX, GUCY2D, PRPH2, CNGA2, CNGB3, CERKL, GUCA1A
Detección de deleciones/duplicaciones ABCA4
Gene NGS MYOC 
Targeted Exome CHST6, COL8A2, DCN, GSN, KRT12, KRT3, PIKFYVE ,SLC4A11, TACSTD2, TGFB1, UBIAD1, ZEB1
Gene NGS SLITRK6
Targeted Exome NDP, FZD4, LRP5, TSPAN12, ZNF408, CTNNB1, ATOH7
NGS Panel FZD4, NDP, LRP5, TSPAN12, ZNF408
Gene NGS LRP5 
Gene NGS FZD4