MACULAR DYSTROPHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 35 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Macular Dystrophy Panel is designed for the genetic study of inherited diseases that primarily affect the macula, the central region of the retina responsible for fine vision and detail. These dystrophies include conditions such as Stargardt disease, Best macular dystrophy, vitelliform macular dystrophy, pattern macular dystrophy, reticular macular dystrophy, and other recessive or dominant forms with progressive loss of central vision, metamorphopsia, and scotomas. The analysis identifies variants in genes involved in retinal pigment epithelium metabolism, retinoid transport, phototransduction, and photoreceptor integrity. Genes analyzed include: ABCA4, BEST1, PRPH2, CRB1, EFEMP1, GUCA1B, RLBP1, RDH12, PROM1, TIMP3, and others. You can obtain the complete list of analyzed genes by contacting Genotica.
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