Leber Hereditary Optic Neuropathy (LHON) - Targeted Testing for 3 Common Pathogenic Variants
Use
This test is intended for individuals who present with symptoms suggestive of Leber hereditary optic neuropathy (LHON) or have a maternal family history of vision loss. LHON is a maternally inherited mitochondrial disorder characterized by acute or subacute painless central vision loss and optic nerve atrophy, affecting predominantly young adults. Early diagnosis through genetic testing can help in the management and potential therapeutic interventions for those affected as well as enabling informed family planning decisions.
Special Instructions
For optimal results, ensure that specimen collection follows recommended procedures. The test offers a stat testing option, providing results within 12-20 days, to address urgent clinical needs.
Limitations
The test is focused on detecting three common pathogenic variants associated with Leber hereditary optic neuropathy (LHON), so it may not detect other variants that could be present in these or other genes not covered by this test. Negative results do not rule out a genetic basis for optic neuropathy but rather indicate that these specific common variants are not present.
New York Approved
Methodology
Sanger (PCR)
Biomarkers
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided