12 – 14 weeks

Achromatopsia Panel

Achromatopsia (also known as monochromatism) is characterized by chromatic blindness (inability to distinguish colors), nystagmus, and photophobia. It is inherited following an autosomal recessive or X-linked pattern. Its population frequency ranges from 1: 30,000 to 1: 50,000 individuals.

The DBGen Achromatopsia Panel includes the genetic study of the coding regions of 8 genes and 5 mutations on non-coding regions.

Do you want to stay informed?

Subscribe to our newsletter:

Copyright © 2022. All Rights Reserved – Quality Policy – Privacy policy Legal notice – Cookies policy

Genetic diagnosis laboratory authorized by the Department of Health of the Government of Catalonia – E08709630