ACHROMATOPSY: CLINICAL EXOME PANEL (Sec. & CNVs) – 13 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Achromatopsia Panel allows for the genetic study of congenital and hereditary forms of retinal cone dysfunction, clinically characterized by nystagmus, photophobia, severe visual acuity loss, and partial or complete color blindness. Achromatopsia can be stationary or progressive, and its molecular diagnosis is key to differentiating it from other retinal dystrophies and guiding visual prognosis. The main entities covered include autosomal recessive congenital achromatopsia, blue cone monochromacy, and some retinopathies associated with mutations in visual transduction genes. This panel analyzes genes involved in photoreceptor function and the visual signaling cascade, such as CNGA3 and CNGB3 (responsible for most cases), GNAT2, PDE6C, PDE6H, and ATF6, among others. Genes analyzed: CNGA3, CNGB3, GNAT2, PDE6C, ATF6, and others. You can consult the complete list of genes analyzed by contacting Genotica.
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