Sorsby pseudoinflammatory dystrophy of the fundus is a progressive macular dystrophy that debuts between the third and sixth decades of life. It is characterized by retinal atrophy and retinal detachment, producing loss of central vision first and then loss of peripheral vision.
Unknown
Service is recommended exclusively when the clinical diagnosis is considered accurate and it is desired to confirm the diagnosis with a genetic study. Otherwise, an approach through a broader panel would be preferable, such as the Retinal Macular Dystrophies service.
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-202313109
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.
Sorsby fundus dystrophy
