This product is only meant for customers who already purchased a MyGenome Test

Achromatopsia is a rare retinal alteration, transmitted in an autosomal recessive manner and characterized by partial or complete color blindness, photophobia, nystagmus (involuntary and repetitive movements of the eyeballs) and severe reduction of visual acuity. Achromatopsia is estimated to affect one in 30,000 people, so it can be considered a rare condition.
This analysis addresses Familial cases of light sensitivity and impaired vision. Retinal examination may appear normal, genetic analysis of disease genes can speed up and confirm the diagnosis. Further analysis is indicated for those planning to have children, the disease is autosomal recessive and the parents could be healthy carriers without showing the symptoms.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp

• Available in less than 24 hours
• Based on Whole Genome Sequencing
• All 8 genes involved in the disease are analyzed
• Investigates SNP and Indel mutations up to 150 bp