NDUFAF3 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: NDUFAF3 NGS Test
Also known as: NDUFAF3 Gene Sequencing, NDUFAF3 Mitochondrial Complex I Deficiency Panel, Nuclear Mitochondrial Complex I Gene Test
NDUFAF3 Gene Mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / One drop blood on FTA card samples. Results in Reports are typically delivered within 3 to 4 weeks from the date 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
To identify pathogenic variants in the NDUFAF3 gene associated with Mitochondrial Complex I deficiency and assist in diagnosis, management, and genetic counselling.
- Test Code
- 4302
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / One drop blood on FTA card
- Result Time
- Reports are typically delivered within 3 to 4 weeks from the date the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. Please carry any previous clinical notes or genetic reports. A genetic counselling session will be arranged to draw a pedigree chart.
Method: Venipuncture / Fingertip blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect 3-5 ml of blood from a vein, or one drop of blood on an FTA card. The collection is quick and safe.
Report Delivery
You can resume your normal daily activities immediately. Any dressing will be left in place for a few hours to prevent bruising.
Timeline: Reports are typically delivered within 3 to 4 weeks from the date the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the NDUFAF3 gene associated with Mitochondrial Complex I deficiency and assist in diagnosis, management, and genetic counselling.
How to Prepare
- No fasting is required before sample collection.
- For blood sample: use an EDTA vacutainer and ensure proper mixing.
- For FTA card: apply one drop of blood onto the printed circle and allow to air-dry for at least 1 hour.
- Please write the patient's name and date on the sample container/card.
- Ship the sample at ambient temperature to the laboratory within 24-48 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling is recommended before and after NDUFAF3 testing to understand inheritance patterns and reproductive implications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labeled or unlabeled specimen
- Sample received in a broken or leaking container
- FTA card with insufficient blood spot
Understanding Your Results
Pathogenic variant detected
Consistent with NDUFAF3-related Mitochondrial Complex I deficiency. Genetic counselling and family screening are strongly recommended.
Variant of uncertain significance (VUS)
Further family studies or functional assays may be required to clarify the clinical significance of the variant.
No pathogenic variant identified
Does not exclude a mitochondrial disorder. Other nuclear or mitochondrial genes may need evaluation.
If you or your child experience developmental delay, seizures, muscle weakness, poor feeding, or unexplained neurological/metabolic symptoms, consult a paediatrician, neurologist, or clinical geneticist for evaluation.
Limitations
- ⚠This test analyzes only the NDUFAF3 gene; variants in other mitochondrial complex I genes will not be detected.
- ⚠Standard NGS may not detect large genomic rearrangements, which require additional testing methods.
- ⚠Variants of uncertain significance (VUS) may be reported and require further family segregation analysis.
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the venipuncture site
- ●Feeling of dizziness or fainting during blood collection (rare)
Interfering Factors
- ●Insufficient DNA quantity from sample
- ●Contamination with maternal cells in fetal/neonatal samples
- ●Improper sample storage leading to DNA degradation
Compare With Similar Tests
| Test | NDUFAF3 Gene Mitochondrial complex I deficiency NGS Genetic Test | MT-ND1 Gene Mitochondrial Complex I Deficiency NGS Genetic Test | NDUFS4 Gene Mitochondrial Complex I Deficiency NGS Genetic Test | Mitochondrial Genome NGS Test |
|---|---|---|---|---|
| Comparison | NDUFAF3 Gene Mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is the NDUFAF3 gene?
What is Mitochondrial Complex I Deficiency?
What does this NGS genetic test detect?
What is the cost of the test?
What sample types are accepted?
Do I need to fast before the test?
How long will it take to get reports?
Will I get genetic counselling?
Can this test be done on children?
What does a positive result mean?
Are there any risks with the test?
In which cities is home sample collection available?
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