HIGH EARLY ONSET MYOPIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 124 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Early-Onset High Myopia Panel analyzes the genetic causes of congenital or infantile forms of severe myopia, characterized by axial elongation of the eyeball and a risk of retinal complications such as retinal detachment or myopic maculopathy. This panel includes genes associated with both isolated myopia and syndromic forms related to collagen dysplasias, retinal dystrophies, or ocular developmental abnormalities, such as those present in Stickler syndrome (COL2A1, COL11A1, COL11A2), Marfan syndrome (FBN1, FBN2), or ocular Ehlers-Danlos syndrome, as well as myopia linked to retinal dystrophies (CRB1, RPGR, RHO). Next-generation sequencing (NGS) allows for the differentiation between syndromic and non-syndromic forms, guiding ophthalmological follow-up and family genetic counseling. Genes analyzed: COL2A1, COL11A1, CRB1, FBN1, FBN2, LRP5, RPGR, PAX6, RHO, SLC39A5, and others. You can consult the complete list of genes analyzed by contacting Genotica.
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