NDUFB3 Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: NDUFB3 Gene NGS Test
Also known as: NDUFB3 Gene Sequencing, Mitochondrial Complex I Deficiency NGS Panel, NDUFB3 Mitochondrial NGS Test
NDUFB3 Gene Mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks after sample arrival at 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
This test is used to diagnose mitochondrial complex I deficiency caused by mutations in the NDUFB3 gene. It helps confirm a clinical diagnosis, guide management, and enable family screening.
- Test Code
- 4305
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks after sample arrival at the laboratory.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No fasting required. No special preparation is needed. Genetic counseling is recommended prior to testing.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
A blood sample will be collected by venipuncture. For FTA card collection, a drop of blood is applied to the card.
Report Delivery
There are no restrictions. You may resume normal activities immediately after sample collection.
Timeline: Reports are issued within 3 to 4 weeks after sample arrival at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
This test is used to diagnose mitochondrial complex I deficiency caused by mutations in the NDUFB3 gene. It helps confirm a clinical diagnosis, guide management, and enable family screening.
How to Prepare
- Provide correct patient identification details.
- For blood draw, use an EDTA tube.
- For FTA card, allow the spot to dry completely before packaging.
- Ensure sample is labeled with patient name and collection date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling is recommended before and after testing to understand the implications of a positive or negative result, especially in the context of family planning and risk to other relatives."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Inadequate sample quantity
- Sample leaking in transit
- Mislabeled or unlabeled sample
Understanding Your Results
If you or your child have unexplained muscle weakness, developmental delay, seizures, or other symptoms suggestive of a mitochondrial disorder, consult a neurologist or clinical geneticist.
Limitations
- ⚠This test only analyzes the NDUFB3 gene; mutations in other complex I genes will not be detected.
- ⚠Variants of uncertain clinical significance may require familial segregation analysis.
- ⚠This is a genetic test and does not measure mitochondrial enzyme activity or functional complex I levels.
- ⚠This test may not detect large gene deletions/duplications depending on the bioinformatics pipeline.
Risks & Considerations
- ●Minimal risk of mild pain, bruising, or bleeding at the venipuncture site
- ●Very rare risk of infection or excessive bleeding
Interfering Factors
- ●Contamination of blood sample with exogenous DNA
- ●Degraded or low-quality DNA
- ●Maternal cell contamination
- ●Incorrect sample labeling or chain of custody error
Frequently Asked Questions
What is the NDUFB3 Gene Mitochondrial Complex I Deficiency NGS Genetic Test?
What is mitochondrial complex I deficiency?
What are the symptoms of mitochondrial complex I deficiency?
Who should undergo this test?
What is the cost of this test?
What sample types are accepted?
Do I need to fast for this test?
How long does the test take?
What is NGS technology?
Can this test detect all causes of mitochondrial complex I deficiency?
Does DNA Labs India provide raw data along with the report?
Is genetic counseling recommended?
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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.
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