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:
This product is only meant for customers who already purchased a Dante Genome Test