MT-ND6 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
Short Name: MT-ND6 Leigh Syndrome NGS
Also known as: MT-ND6 Leigh Syndrome NGS, Mitochondrial Complex I Deficiency MT-ND6 Gene Test, Leigh Syndrome Mitochondrial DNA Test
MT-ND6 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the MT-ND6 gene that are associated with mitochondrial complex I deficiency and Leigh syndrome. It helps confirm the clinical diagnosis, guide management, and enable genetic counselling for families.
- Test Code
- 4183
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No prior preparation or fasting is required. A pre-test genetic counselling session is recommended to capture family history and draw a pedigree chart.
Method: Blood collection by venipuncture or FTA card blood spot
Laboratory Analysis
A small blood sample will be collected by a trained phlebotomist. If using an FTA card, a single drop of blood will be placed on the card.
Report Delivery
No restrictions after collection. The sample is transported to the laboratory for NGS analysis. You will be informed when the report is ready.
Timeline: Reports are typically available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the MT-ND6 gene that are associated with mitochondrial complex I deficiency and Leigh syndrome. It helps confirm the clinical diagnosis, guide management, and enable genetic counselling for families.
How to Prepare
- Use an EDTA vacutainer for whole blood collection
- If using FTA card, ensure the card is labelled with patient details
- Carry any previous MRI, biochemical, or clinical reports to correlate with genetic findings
- For extracted DNA, use a sterile DNA vial with appropriate labelling
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic confirmation in MT-ND6-related Leigh syndrome provides families with clearer recurrence risk information and allows counselling for relatives planning pregnancy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Mislabeled or unlabelled sample
- Clotted blood sample
- Sample received in incorrect container
- Insufficient quantity
- Leaking or contaminated sample
Understanding Your Results
Pathogenic variant detected
Molecular confirmation of MT-ND6-related Leigh syndrome; supports the clinical diagnosis.
No clinically significant variant detected
No evidence of MT-ND6-related cause; other mitochondrial or nuclear genetic causes should be considered.
Variant of uncertain significance
Insufficient evidence to classify as pathogenic or benign; further assessment and family segregation studies may be recommended.
Consult a neurologist or clinical geneticist if a child has developmental regression, hypotonia, seizures, poor feeding, breathing problems, or MRI changes suggestive of Leigh syndrome.
Limitations
- ⚠This test only analyzes the MT-ND6 gene; variants in other nuclear or mitochondrial genes will not be detected
- ⚠Large deletions or rearrangements may not be detected by standard NGS
- ⚠Variant of uncertain significance may require additional family studies
- ⚠A negative result does not completely exclude mitochondrial complex I deficiency
Risks & Considerations
- ●No significant medical risk from a blood draw
- ●Minor discomfort, bruising, or dizziness at the collection site
- ●Potential emotional impact of a genetic result
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination of blood sample
- ●Low sequencing coverage at specific genomic regions
- ●Heteroplasmy levels below the detection threshold
- ●Incorrect sample labelling
Compare With Similar Tests
| Test | MT-ND6 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test | ||
|---|---|---|---|
| Comparison | MT-ND6 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is the cost of the MT-ND6 gene NGS genetic test in India?
What sample is needed for this test?
Is fasting required before the MT-ND6 genetic test?
How long does it take to get the report?
What does the MT-ND6 gene do?
Can this NGS test detect all causes of mitochondrial complex I deficiency?
Will I receive raw data files with this test?
Is genetic counselling needed before the test?
Why is genetic testing recommended if brain MRI already suggests Leigh syndrome?
What does a variant of uncertain significance result mean?
Can asymptomatic family members have this test done?
How can I book the MT-ND6 Leigh syndrome NGS test at DNA Labs India?
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