MT-ND4L Gene Mitochondrial complex I deficiency NGS Genetic Test
Short Name: MT-ND4L NGS Test
Also known as: MT-ND4L Gene Mutation Analysis, Complex I Deficiency NGS Panel, Mitochondrial DNA NGS Test
MT-ND4L 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 typically delivered within 3 to 4 weeks after sample collection or 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
The purpose of this test is to detect pathogenic mutations in the MT-ND4L gene associated with mitochondrial complex I deficiency, thereby supporting clinical diagnosis and medical management.
- Test Code
- 4297
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample collection or receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. Please provide clinical history and a pedigree chart if available. A genetic counseling session is recommended.
Method: Blood draw / FTA card blood spot / DNA sample
Laboratory Analysis
Blood is drawn by trained phlebotomist. For FTA card sample, a drop of blood is applied to the card.
Report Delivery
No specific aftercare required. Patient can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample collection or receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic mutations in the MT-ND4L gene associated with mitochondrial complex I deficiency, thereby supporting clinical diagnosis and medical management.
How to Prepare
- Blood sample should be collected in EDTA tube
- FTA card sample must be air dried completely
- Extracted DNA sample should be at least 1 µg
- Samples must be labeled properly
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This NGS test provides a comprehensive genetic evaluation of MT-ND4L-related mitochondrial disease, supporting early diagnosis and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Clotted sample
- Incorrect labeling or missing details
- Improper storage or transit conditions
Understanding Your Results
Indicates a positive result, consistent with a molecular diagnosis of MT-ND4L-related mitochondrial complex I deficiency.
Significance unclear; further testing or family correlation may be required.
No pathogenic variant was found in the MT-ND4L gene. Does not exclude all mitochondrial diseases.
If symptoms such as developmental delay, muscle weakness, seizures, or other multi-organ involvement are present, consult a neurologist or clinical geneticist for evaluation.
Limitations
- ⚠NGS may not detect all mutation types such as large deletions or deep intronic variants
- ⚠Variants of uncertain significance may be reported
- ⚠This test does not assess mitochondrial enzyme activity or disease severity
- ⚠Negative result does not exclude all forms of mitochondrial dysfunction
Risks & Considerations
- ●Minimal risk of bruising at the needle site
- ●Rare risk of infection from blood draw
- ●No other significant risks associated with this test
Interfering Factors
- ●Recent allogeneic bone marrow transplant
- ●Blood transfusion within 2 weeks
- ●Sample contamination or degradation
- ●Clotted or hemolyzed sample
Compare With Similar Tests
| Test | MT-ND4L Gene Mitochondrial complex I deficiency NGS Genetic Test | Traditional Sanger sequencing | Mitochondrial genome panel |
|---|---|---|---|
| Comparison | MT-ND4L Gene Mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is the MT-ND4L gene?
What is mitochondrial complex I deficiency?
What are the symptoms of mitochondrial complex I deficiency?
How is the MT-ND4L NGS genetic test performed?
What is the cost of this test?
What is the turnaround time for results?
Is fasting required for the test?
What type of sample is required?
Does this test detect all mitochondrial disorders?
What does a negative result mean?
Is this test suitable for children?
Does insurance cover the cost of this test?
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