Oftalmología

Oftalmología

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ProductoTipo de testGenes
Gen NGS OCA2 
Detección de deleciones/duplicaciones OCA2 
Exoma Dirigido GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, CRB1, NMNAT1, CEP290, IMPDH1, RD3, RDH12, LRAT, TULP1, KCNJ13, IQCB1
Gen NGS GUCY2D 
Gen NGS RDH12 
Gen NGS LRAT 
Gen NGS RPE65 
Gen NGS PAX6 
Gen NGS OPA1 
Gen NGS OPA3 
Gen NGS TMEM126A 
Exoma Dirigido COL6A1,COL6A2,COL6A3,COL12A1
Gen NGS NHS 
Exoma Dirigido 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
Exoma Dirigido Cristalino: CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC,CRYGD, CRYGS. Proteínas de membrana/citoesqueleto: GJA3, GJA8, MIP, LIM2, TMEM114, CHMP4B, EPHA2,BFSP1, BFSP2, VIM. Factores de transcripción: HSF4
Exoma Dirigido 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