ECTOPIA LENTIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 19 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Ectopia Lentis panel focuses on the genetic diagnosis of inherited disorders that cause lens dislocation or subluxation, either in isolation or as part of systemic syndromes. This condition can be observed in diseases such as Marfan syndrome, Weill-Marchesani syndrome, classic homocystinuria syndrome, and connective tissue dysplasias, frequently associated with myopia, glaucoma, keratoconus, and other ocular abnormalities. The analysis identifies mutations in genes involved in lens structure, the extracellular matrix, and connective tissue metabolism. Genes analyzed include: FBN1, ADAMTSL4, ADAMTS10, ADAMTS17, CBS, LTBP2, COL5A1, PAX6, FOXC1, CYP1B1, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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