Ophthalmology

None

Product	Type of test	Genes
Glaucoma	NGS Panel	BEST1, CYP1B1, FBN1, LTBP2, MYOC, OPTN, WDR36
Glaucoma 3, primary congenital	Gene NGS	LTBP2
Hereditary glaucoma	Gene NGS	OPTN
Leber congenital amaurosis (LCA)	Targeted Exome	GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, CRB1, NMNAT1, CEP290, IMPDH1, RD3, RDH12, LRAT, TULP1, KCNJ13, IQCB1
Leber congenital amaurosis Type 1	Gene NGS	GUCY2D
Leber congenital amaurosis Type 13	Gene NGS	RDH12
Leber congenital amaurosis Type 14	Gene NGS	LRAT
Leber congenital amaurosis Type 2	Gene NGS	RPE65
Non-syndromic Cataracts	Targeted Exome	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
Oculocutaneous albinism. Type 2	Gene NGS	OCA2
Oculocutaneous albinism. Type 2	Detección de deleciones/duplicaciones	OCA2
Oculopharyngeal muscular dystrophy	Gene NGS	PABPN1
Optic atrophy type 1	Gene NGS	OPA1
Optic atrophy type 3	Gene NGS	OPA3
Optic atrophy type 7	Gene NGS	TMEM126A
Peters anomaly	Gene NGS	PAX6

Showing 17 - 32 of 53 items