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
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Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.
The sequence is divided into several parts, amplified, grouped in clusters and then sequenced.
This sequencing process reveals the order of nucleotides that make up the original DNA sample.
We then compare the genome with a generic and globally recognized reference DNA sequence.
Simple Blood Sample Collection
Painless, quick at home sample collection. User friendly device with CE-IVD mark and FDA approval.
Simply follow the packaging instructions and send the sample back using the pre-paid returns label.
Genomic Consultation Service
Would you like to speak with a genetic specialist? Book an individual session.
Our extensive network of geneticists will provide you with specialized genetic counseling on the topics that are most relevant for you such as diet and nutrition, fitness, injuries and many more.
Check out the full range of our additional reports, available upon completion of the Genome Test.