Achromatopsia is determined by genetic defects affecting the phototransduction process, i.e. the transmission of light signals from the retina to the brain, which will process them. In this condition, the phototransduction by the cones (deputies for daytime vision and color perception) is compromised due to genetic mutations, resulting in the inability to perceive colors
This panel is indicated for those with a family history of the condition or who exhibit the signs of achromatopsia, such as loss of color vision, photophobia, and reduced visual acuity. Genetic testing can confirm the diagnosis by determining the underlying genetic mutations.
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
- More than 8
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
Wellness ReportSee a report
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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.