NDUFA1 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: NDUFA1 NGS Test
Also known as: NDUFA1 Gene Mutation Analysis, Mitochondrial Complex I Deficiency NGS Test, NDUFA1 Next-Generation Sequencing Test
NDUFA1 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 Samples received at the laboratory are processed and reports are usually issued within 3 to 4 weeks from the date of sample receipt.. 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 disease-causing genetic variants in the NDUFA1 gene in individuals presenting with clinical features or biochemical results suggestive of mitochondrial complex I deficiency. It is intended to support or confirm a molecular diagnosis and help clinicians provide more accurate management and genetic counselling.
- Test Code
- 4308
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Samples received at the laboratory are processed and reports are usually issued within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special medical preparation is required. Please complete the clinical history form and attend a genetic counselling session if recommended, so family history can be documented before testing.
Method: Peripheral blood collection, FTA card blood spot, or extracted DNA submission
Laboratory Analysis
A trained phlebotomist will collect a peripheral blood sample in an EDTA tube or a single drop of blood on an FTA card. If you are submitting extracted DNA, follow the laboratory instructions for sample quantity and labelling.
Report Delivery
No restriction of routine activities is needed after sample collection. The laboratory will process the sample and report the result in 3 to 4 weeks. You should review the report with your referring physician or clinical geneticist.
Timeline: Samples received at the laboratory are processed and reports are usually issued within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect disease-causing genetic variants in the NDUFA1 gene in individuals presenting with clinical features or biochemical results suggestive of mitochondrial complex I deficiency. It is intended to support or confirm a molecular diagnosis and help clinicians provide more accurate management and genetic counselling.
How to Prepare
- No fasting is required.
- For whole blood collection, use an EDTA vacutainer.
- For FTA card collection, apply one drop of blood to the marked circle and allow it to dry.
- For extracted DNA, ensure the sample is labelled and submitted according to the laboratory's transport instructions.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For patients with suspected mitochondrial disease, genetic counselling is important to understand inheritance, recurrence risks, and the significance of a genetic finding before NGS testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Improperly labelled sample
- Samples received after the recommended stability period
- Incomplete clinical history or consent form
Understanding Your Results
Pathogenic variant detected
Confirms a molecular diagnosis; genetic counselling and predictive testing in family members may be recommended.
Likely pathogenic variant detected
Supports a probable molecular diagnosis; clinical, biochemical, and family correlation is advised.
Variant of uncertain significance
Insufficient evidence to classify it as disease-causing; further segregation analysis or functional studies may help.
No pathogenic variant detected
Does not exclude mitochondrial complex I deficiency; other genetic and biochemical causes should be considered.
Consult a neurologist, metabolic specialist, or clinical geneticist if there are unexplained developmental delays, muscle weakness, seizures, cardiomyopathy, recurrent vomiting, or a family history of mitochondrial disease. A genetic counsellor should be consulted after receiving a positive, uncertain, or negative genetic test result in the appropriate clinical context.
Risks & Considerations
- ●Mild pain, bruising, or discomfort at the blood collection site
- ●Rare risk of bleeding or hematoma at the puncture site
- ●Psychological impact of a genetic diagnosis or uncertain result
Interfering Factors
- ●Poor DNA quality or low DNA quantity
- ●Suboptimal sample collection or storage conditions
- ●Large deletions, duplications, or structural variants may not be detected by standard NGS
- ●Low-level somatic mosaicism may fall below the detection limit
Frequently Asked Questions
What is the NDUFA1 gene test?
What are the symptoms of mitochondrial complex I deficiency?
Who should take this test?
Do I need to fast before the test?
What sample is required for the NDUFA1 NGS test?
How long will the report take?
What is the cost of this test at DNA Labs India?
Will I get raw data files with the report?
Can this test be done for a child?
What does a positive result mean?
What if no pathogenic variant is found?
How should I book the test?
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