MT-ND5 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: MT-ND5 NGS Test
Also known as: MT-ND5 Mutation Analysis, Mitochondrial Complex I Deficiency Sequencing, MT-ND5 Gene Sequencing
MT-ND5 Gene 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 3 to 4 weeks after the sample reaches the laboratory.. 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
The purpose of this test is to identify pathogenic variants in the MT-ND5 gene that cause mitochondrial complex I deficiency. Early diagnosis can guide management, surveillance, and family planning.
- Test Code
- 4299
- CPT Code
- 81479
- ICD Code
- E88.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A detailed clinical history and a genetic counseling session are needed before testing.
Method: Venipuncture or FTA Card blood spot
Laboratory Analysis
A blood sample is collected by a trained phlebotomist using standard precautions. For FTA card, only a drop of blood is needed.
Report Delivery
No restrictions after sample collection.
Timeline: 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the MT-ND5 gene that cause mitochondrial complex I deficiency. Early diagnosis can guide management, surveillance, and family planning.
How to Prepare
- No fasting required
- Inform your physician about current medications
- Clinical history and pedigree chart should be provided
- Sample can be collected at home or at a collection center
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing is crucial for accurate diagnosis and management of mitochondrial disorders. Counseling and interpretation of results should be done by a specialized team."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood
- Incorrectly labeled sample
- Sample received in an improper container
Understanding Your Results
No pathogenic mutation detected
Negative for known MT-ND5-related mitochondrial complex I deficiency. If clinical suspicion is high, consider further testing.
Pathogenic mutation detected
Positive, consistent with mitochondrial complex I deficiency. Genetic counseling is recommended.
Variant of uncertain significance (VUS) detected
Inconclusive; further segregation analysis and functional studies may be needed.
If the test is positive or if symptoms suggestive of mitochondrial disease persist, consult a clinical geneticist or neurologist for management.
Limitations
- ⚠This test is limited to the MT-ND5 gene and does not rule out other mitochondrial DNA or nuclear gene mutations.
- ⚠Variants of uncertain significance may be identified, requiring further family studies.
- ⚠Presence of heteroplasmy may affect sensitivity.
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Dizziness or fainting during blood draw
- ●Very small risk of infection
Interfering Factors
- ●Lipemia, hemolysis, or improper sample handling
- ●Contamination during DNA extraction
- ●Low DNA quality or quantity
Compare With Similar Tests
| Test | MT-ND5 Gene Mitochondrial complex I deficiency NGS Genetic Test | Mitochondrial Genome NGS Sequencing Test | MT-ATP6 Gene Mitochondrial Complex V Deficiency NGS Test | Leigh Syndrome NGS Genetic Test |
|---|---|---|---|---|
| Comparison | MT-ND5 Gene Mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
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