MT-ND5 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
Short Name: MT-ND5 NGS Genetic Test
Also known as: MT-ND5 Gene Mutation Test, Mitochondrial Complex I Deficiency Genetic Test, Leigh Syndrome NGS Panel (MT-ND5)
MT-ND5 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), Sanger confirmation for detected variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Turnaround time is typically 3 to 4 weeks from the date the sample reaches the laboratory. The report will be shared via email/WhatsApp and the online portal.. 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 the MT-ND5 NGS Genetic Test is to confirm or rule out the presence of pathogenic mutations in the MT-ND5 gene, which cause Leigh syndrome due to mitochondrial complex I deficiency. It aids in establishing a molecular diagnosis, enabling informed clinical management, reproductive planning, and early supportive care. It is also useful for carrier testing in family members where the proband mutation is identified.
- Test Code
- 4178
- ICD Code
- G31.81
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Turnaround time is typically 3 to 4 weeks from the date the sample reaches the laboratory. The report will be shared via email/WhatsApp and the online portal.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation for detected variants
Sample Collection
No special preparation or fasting is required. Please provide any previous genetic test reports, clinical notes, or biochemical test results if available.
Method: Peripheral venipuncture or dried blood spot (FTA card)
Laboratory Analysis
A standard blood draw will be performed by a trained phlebotomist. For FTA card collection, a drop of blood from a finger prick is sufficient.
Report Delivery
No specific aftercare is required. If using FTA card, ensure the card is air-dried and packed in the provided envelope. The sample is stable at room temperature for shipping.
Timeline: Turnaround time is typically 3 to 4 weeks from the date the sample reaches the laboratory. The report will be shared via email/WhatsApp and the online portal.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MT-ND5 NGS Genetic Test is to confirm or rule out the presence of pathogenic mutations in the MT-ND5 gene, which cause Leigh syndrome due to mitochondrial complex I deficiency. It aids in establishing a molecular diagnosis, enabling informed clinical management, reproductive planning, and early supportive care. It is also useful for carrier testing in family members where the proband mutation is identified.
How to Prepare
- Whole blood should be collected in an EDTA vacutainer
- For FTA card, spot the blood within the marked circles and allow to dry completely
- Label the sample with patient name, date of birth, and collection date
- Ship to the laboratory according to the provided transport instructions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"When Leigh syndrome is suspected in an infant or child, a precise molecular diagnosis through NGS is critical for early intervention, prognostication, and informed reproductive counselling for the family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood
- Unlabelled or mislabelled specimen
- FTA card that is wet or contaminated
- Samples received beyond the stability window
Understanding Your Results
Pathogenic variant detected
The diagnosis of Leigh syndrome due to MT-ND5-associated complex I deficiency is confirmed. Clinical management should be tailored to a mitochondrial disorder.
Likely pathogenic variant detected
The variant is considered likely disease-causing; correlation with biochemical and clinical findings is recommended.
Variant of uncertain significance (VUS) detected
The variant cannot be classified as benign or pathogenic at this time. Additional family studies or functional assays may be useful.
No pathogenic mutation detected
No known disease-causing variant was identified in the MT-ND5 gene. Since this test only covers MT-ND5, a broader mitochondrial or nuclear gene panel may be considered.
If the individual is exhibiting any of the indications listed above, or if there is a confirmed family history of Leigh syndrome or mitochondrial complex I deficiency, please consult a neurologist or clinical geneticist to decide about testing.
Limitations
- ⚠This test evaluates the MT-ND5 gene only and does not assess other mitochondrial genes or nuclear genes associated with Leigh syndrome
- ⚠Large deletions or rearrangements in mitochondrial DNA may not be reliably detected by whole exome NGS; separate mitochondrial genome deletion analysis may be needed
- ⚠Variant interpretation may be limited by lack of functional studies or novel variants
- ⚠Genetic testing cannot predict the exact age of onset or severity of the disease in all cases
Risks & Considerations
- ●There are no significant medical risks from the blood draw aside from pain, bruising, or infection at the puncture site (rare).
- ●Psychological impact from receiving a molecular diagnosis may require genetic counselling support.
Interfering Factors
- ●Heteroplasmy may lead to variable mutation load; samples with low heteroplasmy (<10%) may yield ambiguous results
- ●Close homology with nuclear mitochondrial pseudogenes (NUMTs) requiring careful bioinformatics filtering
- ●Contamination with foreign DNA during sample collection
- ●Patient timeline of blood transfusion (for haematological interference) – not relevant for DNA testing
Compare With Similar Tests
| Test | MT-ND5 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test | Mitochondrial Whole Genome Sequencing | Leigh Syndrome Nuclear Panel | Sanger Sequencing of MT-ND5 | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | MT-ND5 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is MT-ND5 and how is it related to Leigh syndrome?
What is the cost of the MT-ND5 NGS genetic test at DNA Labs India?
What is the turnaround time for this test?
What type of sample is required?
Is fasting required before the test?
Will I receive raw data files with my report?
Can genetic testing confirm Leigh syndrome?
Can this test detect heteroplasmy (mix of normal and mutant mitochondrial DNA)?
Is genetic counselling included in the test price?
Does this test cover all other mitochondrial and nuclear genes associated with Leigh syndrome?
Is this test available across India?
How will I get the test report?
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