Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test
Short Name: LHON Mitochondrial Mutation Detection Test
Also known as: LHON Genetic Test, Mitochondrial DNA Test for LHON, LHON Mutation Analysis
Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test test available at DNA Labs India for ₹25,000. Uses Polymerase Chain Reaction (PCR) on Whole Blood samples. Results in Results are typically available within 4 weeks after sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect specific mitochondrial DNA mutations that cause Leber's Hereditary Optic Neuropathy, aiding in definitive diagnosis, risk assessment for family members, and informed clinical decision-making.
- Test Code
- 1158
- Price
- ₹25,000
- Sample Type
- Whole Blood
- Result Time
- Results are typically available within 4 weeks after sample collection.
- Fasting Required
- No
- Method
- Polymerase Chain Reaction (PCR)
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No fasting required.
Method: Venipuncture
Laboratory Analysis
A blood sample of 4 mL will be drawn from a vein in the arm using standard venipuncture technique.
Report Delivery
The sample will be processed and stored according to stability guidelines. Results will be available after 4 weeks.
Timeline: Results are typically available within 4 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect specific mitochondrial DNA mutations that cause Leber's Hereditary Optic Neuropathy, aiding in definitive diagnosis, risk assessment for family members, and informed clinical decision-making.
How to Prepare
- Collect 4 mL whole blood in a Lavender top (EDTA) tube.
- Ship the sample refrigerated. Do not freeze.
- Ensure the sample is labeled correctly with patient details.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for LHON is crucial for accurate diagnosis, understanding inheritance patterns, and guiding family planning decisions. Early detection can help in monitoring and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in incorrect container
- Sample hemolyzed or clotted
- Inadequate sample volume
- Missing or incomplete requisition form
Understanding Your Results
Positive for LHON mutation
Confirms diagnosis of LHON; genetic counseling recommended for family members.
Negative for LHON mutations
No pathogenic mutations detected; clinical correlation advised if symptoms persist.
Variant of uncertain significance
Mutation detected but not conclusively linked to LHON; further testing may be needed.
If you experience sudden vision loss, central vision impairment, or have a family history of LHON, consult an ophthalmologist or geneticist for evaluation and possible testing.
Limitations
- ⚠Test may not detect all rare LHON mutations
- ⚠False negatives possible if mutation load is low
- ⚠Does not predict disease severity or onset
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or hematoma
Interfering Factors
- ●Contaminated or improperly stored sample
- ●Hemolyzed blood sample
- ●Recent blood transfusion (may affect DNA purity)
- ●Inadequate sample volume
Compare With Similar Tests
| Test | Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test | ||
|---|---|---|---|
| Comparison | Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test |
Frequently Asked Questions
What is Leber's Hereditary Optic Neuropathy (LHON)?
What are the common symptoms of LHON?
How is LHON diagnosed?
What is the LHON Mitochondrial Mutation Detection Test?
How is the test performed?
What is the cost of the LHON test in India?
How long does it take to get the results?
Is the test covered by insurance?
Can LHON be treated?
Who should consider getting tested for LHON?
What is the significance of early diagnosis for LHON?
Is home sample collection available for this test?
Related Tests
Nx Gen Sequencing: Glaucoma Test
₹28,665Nx Gen Sequencing: Corneal Dystrophy Test
₹28,665Nx Gen Sequencing: Leber Congenital Amaurosis Test
₹28,665Nx Gen Sequencing: Optic Atrophy Test
₹28,665GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test
₹20,000SLC24A5 Gene Albinism, Oculocutaneous Nonsyndromic NGS Genetic Test
₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.