NDUFAF4 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: NDUFAF4 Complex I NGS
Also known as: NDUFAF4 Gene Mutation Analysis, Complex I Deficiency Genetic Test, Mitochondrial Respiratory Chain Complex I NGS Panel
NDUFAF4 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 delivered in 3 to 4 weeks after sample receipt.. 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
To confirm suspected NDUFAF4-related mitochondrial complex I deficiency by detection of pathogenic variants in NDUFAF4 gene, enabling accurate clinical diagnosis, prognosis, treatment planning and reproductive risk counseling.
- Test Code
- 4306
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. However, a genetic counselling session must be conducted before testing. Please bring clinical history, prior reports, and family pedigree questionnaire.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
A blood sample is drawn from a vein in the arm or a few drops of blood are collected on an FTA card.
Report Delivery
No special precautions are required. The sample will be transported to the laboratory for NGS analysis.
Timeline: Reports are delivered in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To confirm suspected NDUFAF4-related mitochondrial complex I deficiency by detection of pathogenic variants in NDUFAF4 gene, enabling accurate clinical diagnosis, prognosis, treatment planning and reproductive risk counseling.
How to Prepare
- No fasting required
- Inform the clinician about all medications and supplements
- Submit prior genetic testing or biochemical reports if available
- The sample can be collected at home for online bookings
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for mitochondrial complex I deficiency is important for accurate counseling and can guide family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect sample type or contamination
- Unlabeled or mislabeled specimen
Understanding Your Results
If your report shows a pathogenic variant in NDUFAF4 or a variant of uncertain significance, you should consult a clinical geneticist for individualized medical recommendations.
Limitations
- ⚠This test only covers NDUFAF4; it does not assess all nuclear or mitochondrial genes causing complex I deficiency
- ⚠Variant of uncertain significance may require further testing
- ⚠Regulatory region and deep intronic variants may not be detected by standard NGS
- ⚠Large deletions/duplications may not be detected by this NGS test
Risks & Considerations
- ●No significant risks for blood sample collection
- ●Mild bruising at the blood draw site
- ●Rare risk of infection at the puncture site
Interfering Factors
- ●Extreme hemolysis or sample degradation
- ●DNA contamination from another individual
- ●Prior allogeneic bone marrow transplantation
- ●Recent blood transfusion can confound genetic results
Frequently Asked Questions
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Related Tests
Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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