Cone-rod dystrophies (CORD) are characterized by impairment of photoreceptors, which leads to early vision loss. The initial loss of color vision and visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields.
Incidence is estimated at 1/40,000 in Europe.
Exome service is indicated when there is a high suspicion that the patient suffers from cone-rod dystrophy based on the history and ophthalmological clinical examination.
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
"*" indicates required fields
Turnaround time (TAT):
Ref. S-202313099
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to cone and rod dystrophies 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.
Cone-rod dystrophies
