Central areolar choroidal dystrophy is a maculopathy that causes an area of atrophy of the retinal pigment epithelium and the choriocapillaris membrane in the center of the macula. It usually leads to a decrease in visual acuity, which occurs between the ages of 30 and 60.
Estimated at 1-9/100,000 newborns.
Service indicated to complete the diagnosis when the disease is suspected.
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5. Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT):
Ref. S-202313108
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all high-evidence genes related to central areolar choroidal dystrophy based on current literature.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
Central areolar choroidal dystrophy
