NDUFAF1 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: NDUFAF1 NGS Gene Test
Also known as: NDUFAF1 complex I deficiency gene test, Mitochondrial complex I deficiency targeted NGS panel, NDUFAF1 mutation analysis
NDUFAF1 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 from 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
To detect pathogenic variants in the NDUFAF1 gene that may cause mitochondrial complex I deficiency and aid clinical diagnosis.
- Test Code
- 4304
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended before the test to draw a pedigree chart of family members. Please provide the complete clinical history and relevant neurological findings.
Method: Peripheral blood venipuncture / FTA card blood spot / DNA sample submission
Laboratory Analysis
A trained phlebotomist will collect the blood sample. If an FTA card is used, a single drop of blood will be placed on the card. Extracted DNA samples can also be submitted as per laboratory instructions.
Report Delivery
Resume normal activities. No special post-collection restrictions are needed.
Timeline: 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the NDUFAF1 gene that may cause mitochondrial complex I deficiency and aid clinical diagnosis.
How to Prepare
- No special preparation required
- Fasting not required
- Bring any previous medical reports if available
- Genetic counselling session is recommended
- For online bookings, home sample collection is available
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling before testing helps document family history and assess recurrence risk. Post-test counselling is equally important to interpret variants and guide reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled or leaking sample
- Insufficient sample quantity
- Hemolyzed blood sample
- Sample received in inappropriate container
- Inadequate clinical information or missing consent
Understanding Your Results
Positive
Pathogenic or likely pathogenic variant detected in NDUFAF1
Action: Confirms molecular diagnosis; supports clinical management and family screening
Negative
No pathogenic variant detected in NDUFAF1
Action: Consider broader mitochondrial gene panel or whole exome sequencing if clinical suspicion remains high
Variant of Uncertain Significance (VUS)
A variant is present but its clinical significance is not yet established
Action: Family segregation analysis and further functional studies may be needed; genetic counselling recommended
Consult a neurologist, paediatrician or clinical geneticist if you or your child have unexplained developmental delay, muscle weakness, seizures, vision/hearing loss, cardiac abnormalities, lactic acidosis, or a family history of mitochondrial disease.
Limitations
- ⚠NGS may not reliably detect large structural rearrangements, deep intronic variants, repeat expansions or mitochondrial genome heteroplasmy.
- ⚠Variants of uncertain significance may require family segregation studies and functional assessment.
- ⚠The test is specific to the NDUFAF1 gene and does not rule out other mitochondrial disease genes.
Risks & Considerations
- ●Minimal pain or bruising at the blood collection site
- ●Dizziness or light-headedness during blood draw
- ●Rare risk of infection at the puncture site
Interfering Factors
- ●Mutations in other mitochondrial complex I genes can produce similar symptoms
- ●Low-level somatic mosaicism may not be detected
- ●Sample degradation or inadequate DNA quality
- ●Incomplete clinical history may limit variant interpretation
Compare With Similar Tests
| Test | NDUFAF1 Gene Mitochondrial complex I deficiency NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | NDUFAF1 Gene Mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is NDUFAF1 gene mitochondrial complex I deficiency NGS genetic test?
How much does the NDUFAF1 gene NGS genetic test cost in India?
Which sample is needed for this test?
Do I need to fast before the test?
How long does it take to get the report?
Will I get raw data with the report?
What symptoms can prompt this test?
Who should order this test?
What are the limitations of this NGS test?
Is genetic counselling required?
Can this test detect all mitochondrial disorders?
Is home sample collection available for this test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.