MT-ND4 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: MT-ND4 Complex I Deficiency NGS
Also known as: MT-ND4 Complex I Deficiency Genetic Test, NADH Dehydrogenase Subunit 4 Gene Test, Mitochondrial Complex I NGS Panel, MT-ND4 Mitochondrial DNA Mutation Analysis
MT-ND4 Gene Mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The clinical report will be available in 3 to 4 weeks from the date of sample receipt. In case of complex variants, additional confirmatory testing may add a few days.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
This test aims to detect pathogenic variants in the MT-ND4 gene using NGS. The results assist in confirming a diagnosis of mitochondrial complex I deficiency, avoiding invasive procedures such as muscle biopsy in some cases. It also aids in family-based risk assessment and reproductive planning.
- Test Code
- 4300
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The clinical report will be available in 3 to 4 weeks from the date of sample receipt. In case of complex variants, additional confirmatory testing may add a few days.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation)
Sample Collection
No special preparation is needed. You may eat and drink normally. If you are currently on any medication, inform your doctor. A pre-test genetic counselling session may be recommended to discuss the implications of results.
Method: Venipuncture; fingerstick; pre-extracted DNA submission
Laboratory Analysis
A qualified phlebotomist will draw blood from a vein in your arm, or a fingerstick sample will be collected on an FTA card. The process is quick and simple.
Report Delivery
You can leave immediately and resume normal activities. The sample will be transported to the laboratory for NGS analysis.
Timeline: The clinical report will be available in 3 to 4 weeks from the date of sample receipt. In case of complex variants, additional confirmatory testing may add a few days.
Patient Instructions
About This Test
Who Should Get This Test
This test aims to detect pathogenic variants in the MT-ND4 gene using NGS. The results assist in confirming a diagnosis of mitochondrial complex I deficiency, avoiding invasive procedures such as muscle biopsy in some cases. It also aids in family-based risk assessment and reproductive planning.
How to Prepare
- No fasting is required.
- Use a fresh EDTA blood sample collected by venipuncture.
- For FTA cards, apply one drop of blood to each printed circle and allow to dry completely.
- If submitting extracted DNA, ensure concentration is at least 100 ng and free from contaminants.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Mitochondrial DNA disorders are maternally inherited. Genetic counselling helps families understand recurrence risks and reproductive options. A confirmed genetic diagnosis is essential before offering prenatal or preimplantation genetic testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Insufficient DNA quantity/concentration
- Improperly labelled or spilled sample
- FTA card not dried completely
Understanding Your Results
If you or your child have symptoms that suggest mitochondrial dysfunction such as persistent muscle weakness, unexplained seizures, vision loss, or developmental delay, consult a neurologist or clinical geneticist early for evaluation and referral for genetic testing.
Limitations
- ⚠This test only analyses the MT-ND4 gene and does not assess other complex I subunit genes.
- ⚠Large deletions or rearrangements in mitochondrial DNA may not be detected by standard NGS pipelines.
- ⚠Low-level heteroplasmy (typically <5-10%) may escape detection.
- ⚠A negative result does not rule out mitochondrial disease and further testing may be required.
- ⚠The test provides genetic information, not a definitive enzyme activity measurement.
Risks & Considerations
- ●Mild pain, bruising, or bleeding at the blood-drawing site
- ●Light-headedness or fainting during blood collection
- ●Emotional distress from receiving genetic results
Interfering Factors
- ●Maternal contamination in prenatal/neonatal samples
- ●Heteroplasmy levels below the detection threshold of NGS
- ●Confusion between mtDNA pseudogenes and genuine MT-ND4 variants
- ●Use of anticoagulants that degrade DNA
Compare With Similar Tests
| Test | MT-ND4 Gene Mitochondrial complex I deficiency NGS Genetic Test | MT-ND4 Targeted NGS | Whole Mitochondrial Genome NGS | Nuclear Mitochondrial Panel |
|---|---|---|---|---|
| Comparison | MT-ND4 Gene Mitochondrial complex I deficiency NGS Genetic Test |
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