Leber hereditary optic neuropathy usually debuts in young adults as a subacute, bilateral, and painless visual failure. Is caused, in most cases, by one of the 3 mutations identifiable through this service, namely:
It is estimated at 1/30,000-50,000.
If Leber’s optic neuropathy is suspected, starting with the analysis of these 3 variants would be indicated based on the high frequency of their involvement in the etiology of the disease.
The presence of symptoms and signs compatible with this disease would make this service highly recommended.
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-202212459
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.
Leber hereditary optic neuropathy. Recurrent mitochondrial genome mutations. NextGeneDx
