STATIONARY CONGENITAL NIGHT BLINDNESS: CLINICAL EXOME PANEL (Sec. & CNVs) – 25 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Congenital Stationary Night Blindness panel allows for the genetic study of a group of inherited retinal diseases characterized by non-progressive rod dysfunction, causing difficulty seeing in low light conditions from birth or early childhood. These conditions can occur in isolation or be associated with refractive errors or abnormal eye movements. The analysis includes genes involved in visual transduction and photoreceptor synapses, responsible for autosomal dominant, recessive, or X-linked forms. Genes analyzed include: CACNA1F, GRM6, GNAT1, GPR179, TRPM1, RHO, RPE65, SAG, NYX, CABP4, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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