Ophthalmology

Ophthalmology

None

Product Type of test Genes
NGS Panel PAX6, CYP1B1, PITX2 (RIEG1), PITX3, FOXE3, FOXC1.
Gene NGS B3GLCT
Gene NGS CYP1B1, LTBP2
Gene NGS CYP1B1 
Detección de deleciones/duplicaciones POLG
Gene NGS PAX2
Targeted Exome 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
Targeted Exome 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
Gene NGS RPGR
Targeted Exome USH2A, ABCA4, PDE6A, PDE6B, RPE65, CNGA1, EYS, CRB1, CERKL
Gene NGS RB1 
Targeted Exome ABCA4, CNGB3, ELOVL4, PROM1, PRPH2
NGS Panel MYO7A, USH1C, CDH23, PCDH15, USH1G
NGS Panel USH2A,GPR98, DFNB31
Gene NGS USH2A
Gene NGS BEST1