NDUFAF5 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: NDUFAF5 NGS Test
Also known as: Complex I deficiency genetic test, NDUFAF5 mitochondrial disorder test, Mitochondrial complex I NGS panel
NDUFAF5 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 within 3 to 4 weeks after the sample reaches 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 test is to identify pathogenic variants in the NDUFAF5 gene, confirm a clinical suspicion of mitochondrial complex I deficiency, support medical management, and provide information for genetic counseling.
- Test Code
- 4319
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please provide relevant clinical history, prior metabolic reports, and family pedigree information.
Method: Venipuncture or FTA card spot collection
Laboratory Analysis
A blood sample will be collected by trained personnel using venipuncture, or a single drop of blood will be spotted on an FTA card as per the collection kit instructions.
Report Delivery
No specific precautions are required after collection. The sample should be transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the NDUFAF5 gene, confirm a clinical suspicion of mitochondrial complex I deficiency, support medical management, and provide information for genetic counseling.
How to Prepare
- Blood sample to be collected in an EDTA vacutainer
- For FTA card: spot one drop of blood on the indicated circles and allow to air dry
- Label the sample with the patient's name and unique ID
- Complete the requisition form with clinical history and family pedigree
- Send the sample to DNA Labs India for processing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"When mitochondrial complex I deficiency is suspected, early genetic testing can provide a molecular diagnosis and guide family counseling and management planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood
- Inadequate sample volume
- Unlabeled or mislabeled sample
- Sample received in improper container
- Sample leaked during transport
Understanding Your Results
Pathogenic variant in NDUFAF5 detected
Confirms the molecular diagnosis of NDUFAF5-associated mitochondrial complex I deficiency. Genetic counseling is recommended.
No pathogenic variant detected
Does not exclude mitochondrial complex I deficiency. Broader gene testing or functional assays may be considered based on clinical suspicion.
Variant of uncertain significance (VUS)
The clinical significance of the variant is currently unknown. Additional family segregation studies or functional evidence may help reclassify the variant.
Consult a neurologist, geneticist, or metabolic specialist if you or a family member has unexplained lactic acidosis, hypotonia, seizures, developmental regression, muscle weakness, cardiomyopathy, or respiratory failure.
Limitations
- ⚠Targeted NGS may not detect deep intronic variants, large deletions or duplications.
- ⚠This test does not evaluate mitochondrial DNA (mtDNA) variants.
- ⚠Variants of uncertain significance may require further family studies or functional evidence.
- ⚠A negative result does not exclude a biochemical or clinical diagnosis of mitochondrial complex I deficiency.
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Very rare risk of infection
- ●No significant medical risk from a blood sample
Interfering Factors
- ●Low-quality or degraded DNA
- ●Sample contamination
- ●Incomplete target region capture
- ●High GC content causing reduced sequence coverage
- ●Incorrect sample or requisition labeling
Compare With Similar Tests
| Test | NDUFAF5 Gene Mitochondrial complex I deficiency NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | NDUFAF5 Gene Mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is the cost of the NDUFAF5 gene NGS genetic test at DNA Labs India?
What is the NDUFAF5 gene?
What are the symptoms of NDUFAF5-related mitochondrial complex I deficiency?
What sample type is required for this test?
Is fasting required for this NGS genetic test?
How long does it take to get the report?
Will I receive raw data files with my report?
Which doctor should I consult before taking this test?
Does this test detect all causes of mitochondrial complex I deficiency?
Can this test be performed on a child?
What does a positive result mean?
What does a negative result mean?
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.