MT-TN Gene Mitochondrial complex I deficiency, MT-TN related NGS Genetic Test
Short Name: MT-TN Complex I NGS Test
Also known as: MT-TN gene mutation analysis, Mitochondrial complex I deficiency genetic test, MT-TN NGS genetic test
MT-TN Gene Mitochondrial complex I deficiency, MT-TN related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One Drop Blood on FTA Card samples. Results in Reports are generally available within 3 to 4 weeks after the laboratory receives the sample.. 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 NGS test is used to detect pathogenic or likely pathogenic variants in the MT-TN gene in individuals with suspected mitochondrial complex I deficiency. It can help confirm a molecular diagnosis in the appropriate clinical context, identify the genetic basis in families with a possible maternal inheritance pattern, and support clinical management, recurrence risk assessment and genetic counselling.
- Test Code
- 4316
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or One Drop Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks after the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Pre-test genetic counselling is recommended and a detailed clinical and family history, including a pedigree chart, should be obtained before undergoing the MT-TN NGS genetic test.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A small blood sample is drawn by venipuncture. For an FTA card sample, one drop of blood is placed on the marked area and allowed to air-dry completely.
Report Delivery
There are no activity restrictions after sample collection. The sample should be transported to the laboratory according to the instructions provided by DNA Labs India.
Timeline: Reports are generally available within 3 to 4 weeks after the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
This NGS test is used to detect pathogenic or likely pathogenic variants in the MT-TN gene in individuals with suspected mitochondrial complex I deficiency. It can help confirm a molecular diagnosis in the appropriate clinical context, identify the genetic basis in families with a possible maternal inheritance pattern, and support clinical management, recurrence risk assessment and genetic counselling.
How to Prepare
- Use the blood collection tube or FTA card provided in the kit
- For FTA card, apply one drop of blood to the designated circle and let it air-dry completely
- Label the sample clearly with the patient's full name, date of birth and collection date
- Inform the laboratory if the sample is extracted DNA rather than whole blood or FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The clinical spectrum of MT-TN-related complex I deficiency is broad. A positive genetic result must be integrated with neurological examination, serum lactate, neuroimaging and biochemical findings where indicated."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or incorrectly labelled sample
- Clotted or severely haemolysed blood sample
- FTA card that is still wet or improperly stored
- Insufficient sample quantity
- Sample received beyond the recommended stability window
Understanding Your Results
Negative
No pathogenic or likely pathogenic MT-TN variant detected. Mitochondrial complex I deficiency due to MT-TN is not confirmed, but another genetic cause may still be present.
Positive
A pathogenic or likely pathogenic MT-TN variant is detected. This supports the molecular diagnosis of MT-TN-related mitochondrial complex I deficiency in the appropriate clinical context.
Variant of uncertain significance (VUS)
A variant was found but its clinical significance is unclear. Further family studies, functional tests or additional genetic testing may be required.
Consult a neurologist, geneticist or metabolic specialist if you or a family member have unexplained muscle weakness, developmental delay, seizures, exercise intolerance or a family history of mitochondrial disease. Genetic testing should be ordered only after clinical evaluation and counselling.
Limitations
- ⚠Targeted NGS may not detect all mitochondrial DNA rearrangements, large deletions or nuclear gene mutations
- ⚠A variant of uncertain significance (VUS) does not by itself establish a diagnosis
- ⚠A negative result does not exclude a mitochondrial disorder or a nuclear-encoded cause of complex I deficiency
- ⚠Clinical correlation and biochemical testing may still be required
Risks & Considerations
- ●No significant physical risks are associated with this genetic test
- ●Blood collection may cause mild pain, bruising or very rarely infection at the puncture site
- ●FTA card blood spot collection is minimally invasive and carries minimal risk
Interfering Factors
- ●Low-quality or degraded DNA
- ●Very low heteroplasmy level below the assay's detection threshold
- ●Sample contamination during collection or processing
- ●Improper storage or transport conditions
Compare With Similar Tests
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| Comparison | MT-TN Gene Mitochondrial complex I deficiency, MT-TN related NGS Genetic Test |
Frequently Asked Questions
What is MT-TN gene mitochondrial complex I deficiency?
What symptoms are associated with MT-TN-related complex I deficiency?
What does the MT-TN NGS genetic test detect?
Why is genetic testing important for mitochondrial complex I deficiency?
Who should undergo this test?
What sample is required for the MT-TN NGS test?
Is fasting necessary before the test?
How long will the test report take?
What is the cost of the MT-TN NGS genetic test at DNA Labs India?
Does DNA Labs India provide raw data files along with the report?
What does a positive or negative result mean?
Is genetic counselling recommended before testing?
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