Oftalmología

Oftalmología

None

Producto Tipo de test Genes
Gen NGS PAX2
Gen NGS CHM 
Exoma Dirigido ABCA4, APOE, ARMS2, BEST1, C2, C3, CFB, CFH, CFHR1, CFHR3, CNGB3, FBLN5, HF1, HMCN1, HTRA1, PLEKHA1
Panel NGS ABCA4, AIPL1, CRX, GUCY2D, PRPH2, CNGA2, CNGB3, CERKL, GUCA1A
Detección de deleciones/duplicaciones ABCA4
Gen NGS BEST1 
Gen NGS PABPN1
Exoma Dirigido CHST6, COL8A2, DCN, GSN, KRT12, KRT3, PIKFYVE ,SLC4A11, TACSTD2, TGFB1, UBIAD1, ZEB1
Exoma Dirigido ABCA4, ADAM9, ADGRA3, AIPL1, ARL2BP, ARL6, BEST1, C21orf2, C2orf71, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CRB1, CRX, DHDDS, DHX38, EMC1, EYS, FAM161A, FSCN2, GNAT1, GNAT2, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, KCNV2, KIAA1549, KIZ, KLHL7, LRAT, MAK, MERTK, MGAM, MVK, NEK2, NR2E3, NRL, NYX, OPN1SW, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PITPNM3, PROM1, PRPF3, PRPF31, PRPF4 ,PRPF6, PRPF8, PRPH2, RAB28, RAX2, RBP3, RDH12, RDH5, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, TOPORS, TRPM1, TTC8, TTLL5, TULP1, UNC119, USH2A, ZNF513
Exoma Dirigido ALMS1, ARL6, BBIP1, BBS1, CCDC28B, CDH23, CEP290, CIB2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, IFT27, IQCB1, LZTFL1, MFRP, MKKS, MKS1, MT-ATP6, MT-TS2, MYO7A, NPHP1, NPHP4, PANK2, PCDH15, PEX7, PHYH, PNPLA6, RDH11, SDCCAG8, TMEM67, TRAF3IP1, TRIM32, TRNT1, TTC8, USH1C, USH1G, VPS13B, WDPCP, WDR19
Panel NGS BEST1, CYP1B1, FBN1, LTBP2, MYOC, OPTN, WDR36
Gen NGS MYOC 
Gen NGS OPTN 
Gen NGS CYP1B1, LTBP2
Gen NGS LTBP2 
Gen NGS CYP1B1