MT-ND2 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: MT-ND2 NGS Test
Also known as: MT-ND2 Gene Mutation Analysis, Mitochondrial Complex I Deficiency NGS Test, MT-ND2 Next Generation Sequencing
MT-ND2 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 Reports are issued 3 to 4 weeks from sample receipt. The final clinical report includes variant details, pathogenicity classification, and clinical recommendations. Raw FASTQ and VCF files are also provided.. 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 NGS genetic test is to detect clinically significant variants in the MT-ND2 gene that are associated with mitochondrial complex I deficiency. The test aids confirmation of diagnosis, supports clinical management, informs genetic counselling, and helps assess recurrence risk in families.
- Test Code
- 4301
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued 3 to 4 weeks from sample receipt. The final clinical report includes variant details, pathogenicity classification, and clinical recommendations. Raw FASTQ and VCF files are also provided.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended to obtain informed consent and draw a pedigree chart. The referring doctor should provide relevant clinical history and prior test results.
Method: Venous blood collection / FTA card blood spot / Extracted DNA submission
Laboratory Analysis
A trained phlebotomist will collect blood, or a few drops of blood on an FTA card, or an extracted DNA sample, depending on the requested specimen type.
Report Delivery
No special restrictions are needed after collection. The sample is transported to the laboratory at ambient temperature or as directed. The report will be issued in 3 to 4 weeks and will be shared along with raw FASTQ/VCF files.
Timeline: Reports are issued 3 to 4 weeks from sample receipt. The final clinical report includes variant details, pathogenicity classification, and clinical recommendations. Raw FASTQ and VCF files are also provided.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect clinically significant variants in the MT-ND2 gene that are associated with mitochondrial complex I deficiency. The test aids confirmation of diagnosis, supports clinical management, informs genetic counselling, and helps assess recurrence risk in families.
How to Prepare
- Submit the clinical history and genetic counselling form with the sample
- Label the sample tube or FTA card with patient name, date of birth, and date of collection
- Blood samples should not be frozen; store at 2-8°C if transport is delayed
- For FTA cards, allow the blood spot to dry completely before packing
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"A multidisciplinary evaluation is advisable for MT-ND2-related complex I deficiency. Genetic testing should always be interpreted with clinical, biochemical, and radiological findings. In females, maternal mitochondrial DNA inheritance should be considered during family planning and counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, haemolysed, or frozen whole blood
- Improperly labelled or unlabelled specimen
- Insufficient FTA blood spot
- No consent or clinical history form
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Consistent with MT-ND2-related mitochondrial complex I deficiency. Clinical correlation, heteroplasmy assessment, and maternal family testing are advised.
No pathogenic variant detected
MT-ND2 involvement is not supported. Other mitochondrial genome regions or nuclear genes should be considered if clinical suspicion remains.
Variant of uncertain significance (VUS)
The clinical significance is unknown. Additional testing of family members, segregation analysis, and functional studies may help clarify its role.
Consult a neurologist, metabolic physician, or clinical geneticist if the patient has unexplained developmental delay, seizures, muscle weakness, cardiomyopathy, vision or hearing loss, or a family history of a confirmed mitochondrial DNA variant. Early referral is advised because early diagnosis may improve monitoring and management.
Limitations
- ⚠This test targets the MT-ND2 gene only; variants in other mitochondrial or nuclear complex I genes will not be detected.
- ⚠A negative result does not exclude mitochondrial complex I deficiency because of genetic heterogeneity.
- ⚠A variant of uncertain significance may require familial segregation or functional studies for interpretation.
- ⚠Nuclear-mitochondrial gene interactions are not assessed by this test.
Risks & Considerations
- ●Mild pain or bruising at the venepuncture site
- ●Very small risk of infection
- ●No direct physical risk from FTA card sampling
- ●Potential psychological impact of a genetic finding
Interfering Factors
- ●Sample mix-up or contamination with maternal DNA
- ●Recent allogeneic bone marrow transplant may alter blood-derived mtDNA results
- ●Low-level heteroplasmy may fall below the analytical sensitivity of the assay
- ●Large mitochondrial DNA deletions or rearrangements may not be reliably detected by this NGS assay
Compare With Similar Tests
| Test | MT-ND2 Gene Mitochondrial complex I deficiency NGS Genetic Test | Mitochondrial DNA Full Genome NGS Test | Nuclear Mitochondrial Gene Panel | Whole Exome Sequencing for Mitochondrial Disorders |
|---|---|---|---|---|
| Comparison | MT-ND2 Gene Mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is the MT-ND2 gene test?
What sample is needed for the MT-ND2 NGS test?
Is fasting required for this test?
How much does the MT-ND2 NGS genetic test cost in India?
How long will the report take?
Will I get raw data and VCF files with the report?
Who should take this test?
What does a negative result mean?
Can this test detect all mitochondrial complex I deficiencies?
Is genetic counselling recommended before the test?
How is the MT-ND2 NGS test performed?
Can this test rule out all mitochondrial diseases in a family?
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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.
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