Leber’s Hereditary Optic Neuropathy LHON Mitochondrial Mutation Detection Test
Understanding Leber’s Hereditary Optic Neuropathy (LHON)
Leber’s Hereditary Optic Neuropathy (LHON) is a rare mitochondrial genetic disorder that primarily affects the optic nerves, leading to progressive vision loss. This condition follows a maternal inheritance pattern since mitochondrial DNA is exclusively passed from mother to offspring. The LHON Mitochondrial Mutation Detection Test represents a breakthrough in genetic diagnostics, offering precise identification of specific mitochondrial mutations responsible for this debilitating eye condition.
What Does the LHON Test Detect?
This advanced molecular diagnostic test specifically targets and identifies three primary mitochondrial DNA mutations that account for approximately 90% of LHON cases worldwide:
- m.11778G>A mutation in the MT-ND4 gene
- m.3460G>A mutation in the MT-ND1 gene
- m.14484T>C mutation in the MT-ND6 gene
These mutations disrupt the normal function of complex I in the mitochondrial respiratory chain, leading to impaired energy production in retinal ganglion cells and subsequent optic nerve degeneration.
Who Should Consider LHON Genetic Testing?
Primary Candidates for Testing Include:
- Individuals experiencing unexplained, progressive vision loss in one or both eyes
- Patients with family history of LHON or maternal lineage vision disorders
- Young adults (typically 15-35 years) presenting with sudden vision deterioration
- Individuals with characteristic optic disc swelling and vascular changes
- Family members of confirmed LHON patients for carrier status determination
- Patients with suspected mitochondrial disorders affecting vision
Key Symptoms and Clinical Indicators
Common symptoms that may indicate the need for LHON testing include:
- Sudden or gradual central vision loss
- Color vision abnormalities, particularly red-green discrimination issues
- Scotomas (blind spots) in the central visual field
- Optic disc hyperemia and swelling during acute phases
- Progressive bilateral vision deterioration over weeks to months
Benefits of LHON Mitochondrial Mutation Detection
Comprehensive Diagnostic Advantages:
- Early Intervention Opportunities: Enables timely management strategies before significant vision loss occurs
- Family Planning Guidance: Provides crucial genetic information for reproductive decisions
- Accurate Diagnosis: Differentiates LHON from other optic neuropathies with similar presentations
- Personalized Management: Facilitates targeted therapeutic approaches and lifestyle modifications
- Genetic Counseling Support: Empowers informed decisions about vision preservation strategies
- Prognostic Information: Certain mutations have better spontaneous recovery rates
Understanding Your Test Results
Interpretation Guidelines:
Positive Result: Detection of one or more primary LHON mutations confirms the diagnosis. This result indicates increased risk for vision loss and enables proactive management strategies. Genetic counseling is strongly recommended for comprehensive family risk assessment.
Negative Result: Absence of the three primary mutations significantly reduces LHON likelihood. However, rare secondary mutations or other optic neuropathies may still require consideration through additional testing.
Carrier Status: Females with LHON mutations may remain asymptomatic carriers while still transmitting the condition to offspring. Males with mutations typically develop symptoms, though penetrance varies.
Test Specifications and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | Leber’s Hereditary Optic Neuropathy LHON Mitochondrial Mutation Detection Test |
| Regular Price | $876 USD |
| Discount Price | $626 USD |
| Turnaround Time | 4 Weeks |
| Sample Type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube |
| Shipping Requirements | Ship refrigerated. DO NOT FREEZE |
| Required Documentation | Duly filled Genomics Clinical Information Requisition Form (Form 20) |
Nationwide Testing Availability
We provide comprehensive LHON genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Eye Health
Early detection of LHON mutations can significantly impact vision preservation and family planning decisions. Our state-of-the-art molecular diagnostics laboratory utilizes advanced PCR technology to deliver accurate, reliable results you can trust for making informed healthcare decisions.
Ready to Schedule Your Test?
Don’t wait to address concerns about hereditary vision conditions. Our genetic specialists are available to discuss your testing needs and provide comprehensive support throughout the process.
Call or WhatsApp us today at +1(267) 388-9828 to book your Leber’s Hereditary Optic Neuropathy LHON Mitochondrial Mutation Detection Test and take the first step toward understanding your genetic eye health.
