Mitochondrial Genome Sequencing and Analysis Test
Short Name: Mitochondrial Genome Sequencing
Also known as: mtDNA Sequencing, Mitochondrial DNA Analysis, Whole Mitochondrial Genome Sequencing
Mitochondrial Genome Sequencing and Analysis Test test available at DNA Labs India for ₹28,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Extracted DNA samples. Results in Results are typically available within 8 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of mitochondrial genome sequencing is to identify pathogenic variants in the mitochondrial DNA that may cause or contribute to mitochondrial dysfunction. This test aids in confirming a clinical diagnosis of mitochondrial disease, differentiating it from other conditions with overlapping symptoms, and providing prognostic information. It also helps in identifying carriers of mitochondrial mutations for family planning and genetic counseling. Early diagnosis through this test can enable timely intervention, potentially slowing disease progression and improving quality of life.
- Test Code
- 6349
- CPT Code
- 81401
- ICD Code
- E88.49
- Price
- ₹28,000
- Sample Type
- Extracted DNA
- Result Time
- Results are typically available within 8 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Sample Collection
No special preparation is required. However, inform your healthcare provider about any medications or supplements you are taking, as some may affect mitochondrial function.
Method: Blood draw or buccal swab (if DNA extraction required)
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be sent to the laboratory for analysis.
Timeline: Results are typically available within 8 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of mitochondrial genome sequencing is to identify pathogenic variants in the mitochondrial DNA that may cause or contribute to mitochondrial dysfunction. This test aids in confirming a clinical diagnosis of mitochondrial disease, differentiating it from other conditions with overlapping symptoms, and providing prognostic information. It also helps in identifying carriers of mitochondrial mutations for family planning and genetic counseling. Early diagnosis through this test can enable timely intervention, potentially slowing disease progression and improving quality of life.
How to Prepare
- Ensure the sample is labeled correctly with patient details
- Use EDTA tube for blood collection
- If buccal swab is used, avoid eating or drinking 30 minutes before collection
- Transport samples at room temperature within 24 hours; if delayed, refrigerate
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Mitochondrial genome sequencing is essential for diagnosing primary mitochondrial disorders. Early identification of pathogenic variants can guide management and reproductive counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient quantity of DNA
- Improperly labeled or unlabeled sample
- Sample received after prolonged storage without proper conditions
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of mitochondrial disease; may guide treatment and reproductive counseling
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to clarify clinical significance
No pathogenic variants detected
Mitochondrial DNA cause is unlikely; consider nuclear gene testing or other etiologies
Heteroplasmy detected
Level of heteroplasmy may correlate with disease severity; clinical correlation required
If you or a family member experience symptoms suggestive of mitochondrial dysfunction, such as unexplained muscle weakness, fatigue, neurological deficits, or metabolic crises, consult a clinical geneticist or neurologist for evaluation. Early diagnosis can significantly impact management.
Limitations
- ⚠This test only analyzes mitochondrial DNA; nuclear gene mutations causing mitochondrial dysfunction are not detected
- ⚠Variants of uncertain significance may be reported; interpretation may require further testing
- ⚠Heteroplasmy levels below the detection threshold may not be identified
- ⚠Not a substitute for clinical evaluation or other diagnostic tests
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic findings
- ●Potential for incidental findings
Interfering Factors
- ●Contamination with nuclear DNA (pseudogenes) may complicate analysis
- ●Low heteroplasmy levels may be missed if coverage is insufficient
- ●Sample degradation due to improper storage or transport
- ●Recent blood transfusion may dilute mtDNA from patient's own cells
Compare With Similar Tests
| Test | Mitochondrial Genome Sequencing and Analysis | Nuclear Mitochondrial Gene Panel | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | Mitochondrial Genome Sequencing and Analysis |
Frequently Asked Questions
What is mitochondrial genome sequencing?
Who should consider this test?
What sample is required?
Is fasting required?
How long does it take to get results?
What does the test cost?
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Can this test detect all mitochondrial diseases?
What is heteroplasmy?
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