NDUFS2 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: NDUFS2 NGS Test
Also known as: NDUFS2 gene sequencing, NDUFS2 mitochondrial complex I deficiency NGS panel, Mitochondrial complex I deficiency genetic test
NDUFS2 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 generally delivered within 3 to 4 weeks after the sample is received by the laboratory.. 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 this NGS genetic test is to detect pathogenic mutations in the NDUFS2 gene associated with mitochondrial complex I deficiency, confirm genetic diagnosis in symptomatic individuals, and assist in genetic counselling, prognosis and recurrence risk assessment.
- Test Code
- 4314
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally delivered within 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counselling session is recommended before testing to discuss inheritance, implications and obtain informed consent.
Method: Peripheral blood draw / FTA card blood spot / extracted DNA submission
Laboratory Analysis
Blood sample collection is a quick procedure; if FTA card is used, a single drop of blood is spotted onto the card.
Report Delivery
Samples are stored and transported to the laboratory at ambient temperature. No dietary or activity restrictions apply.
Timeline: Reports are generally delivered within 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the NDUFS2 gene associated with mitochondrial complex I deficiency, confirm genetic diagnosis in symptomatic individuals, and assist in genetic counselling, prognosis and recurrence risk assessment.
How to Prepare
- No fasting required for this test.
- Inform the laboratory about any prior bone marrow transplant or blood transfusion, as it may affect molecular results.
- Bring previous genetic test reports, if any, for correlation.
- For FTA card, ensure the blood spot is completely dry before packing.
- For extracted DNA, provide concentration, purity and storage details if available.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mitochondrial complex I deficiency presents with diverse neurological and systemic symptoms. Genetic confirmation of NDUFS2 variants is important for accurate prognosis and family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Specimen received in heparinized green-top tube instead of EDTA
- Haemolyzed or clotted blood sample
- Insufficient volume or leaking sample during transit
- FTA card contaminated with moisture or multiple blood spots
- DNA with insufficient concentration or high degradation
Understanding Your Results
Consult a neurologist or clinical geneticist if a child has unexplained developmental delay, seizures, hypotonia, cardiomyopathy, or a combination of these symptoms; if a mitochondrial disorder is suspected; or if there is a family history of NDUFS2-related mitochondrial complex I deficiency.
Limitations
- ⚠This NGS test specifically targets the NDUFS2 gene and does not evaluate other genes associated with mitochondrial complex I deficiency
- ⚠Large genomic rearrangements, mitochondrial DNA variants or repeat expansions may not be detected
- ⚠A negative result does not exclude a mitochondrial disease caused by another gene
- ⚠Variants of uncertain significance may require additional family segregation studies
- ⚠Results should always be interpreted in the context of clinical and biochemical findings
Risks & Considerations
- ●No significant risks for a blood sample
- ●Mild bruising, bleeding or infection at the puncture site
- ●Possible psychological stress or anxiety after receiving test results
Interfering Factors
- ●Contamination with maternal DNA during sample collection may affect results
- ●Incomplete gene coverage at some GC-rich regions may limit detection of certain variants
- ●Very low-quality or degraded DNA may fail amplification and NGS library preparation
- ●Variants in non-coding regulatory regions may not be detected by standard exon-targeted NGS
- ●Large deletions/duplications may require additional testing such as MLPA or chromosomal microarray
Compare With Similar Tests
| Test | NDUFS2 Gene Mitochondrial complex I deficiency NGS Genetic Test | NDUFS2 Targeted NGS | Sanger Sequencing | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | NDUFS2 Gene Mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is the NDUFS2 gene mitochondrial complex I deficiency NGS genetic test?
What are the common symptoms of NDUFS2 gene mitochondrial complex I deficiency?
How is the NDUFS2 NGS genetic test performed?
Do I need to fast before the NDUFS2 genetic test?
What is the cost of the NDUFS2 gene mitochondrial complex I deficiency NGS genetic test?
How long does it take to get the NDUFS2 genetic test report?
What type of sample is required for this test?
Is home sample collection available for this test?
Will I receive raw data along with the clinical report?
Is this NDUFS2 test diagnostic for mitochondrial complex I deficiency?
Do I need genetic counselling before the test?
Which doctor should I consult for this test?
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