Mitochondrial Genome Sequencing Test
Also known as: Mitochondrial DNA Sequencing, mtDNA Sequencing, Mitochondrial Genome Analysis
Mitochondrial Genome Sequencing Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing on Extracted DNA samples. Results in Reports are typically delivered within 2-3 weeks after sample collection.. 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 detect pathogenic variants in the mitochondrial DNA that cause mitochondrial diseases. This test helps in confirming a clinical diagnosis, identifying the genetic basis of the disorder, and facilitating appropriate management and genetic counseling. It is particularly useful in patients with unexplained multisystem symptoms, suspected mitochondrial cytopathy, or a family history of mitochondrial disorders.
- Test Code
- 6367
- CPT Code
- 81460
- ICD Code
- E88.49
- Price
- ₹20,000
- Sample Type
- Extracted DNA
- Result Time
- Reports are typically delivered within 2-3 weeks after sample collection.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing
Sample Collection
No special preparation required. Inform your doctor about any medications or supplements you are taking.
Method: Blood draw or tissue biopsy
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. For tissue samples, a biopsy will be performed by a healthcare professional.
Report Delivery
You can resume normal activities immediately. Bruising at the puncture site is normal and resolves quickly.
Timeline: Reports are typically delivered within 2-3 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of mitochondrial genome sequencing is to detect pathogenic variants in the mitochondrial DNA that cause mitochondrial diseases. This test helps in confirming a clinical diagnosis, identifying the genetic basis of the disorder, and facilitating appropriate management and genetic counseling. It is particularly useful in patients with unexplained multisystem symptoms, suspected mitochondrial cytopathy, or a family history of mitochondrial disorders.
How to Prepare
- For blood sample: Use EDTA tube, mix gently, and store at 2-8°C if not processed within 24 hours.
- For tissue sample: Place in sterile container with saline or transport medium, keep at 2-8°C.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Mitochondrial genome sequencing is a powerful tool for diagnosing primary mitochondrial disorders. Early diagnosis can guide management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Pathogenic variant detected
Confirms mitochondrial disease. Genetic counseling recommended.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to clarify significance.
No pathogenic variant detected
Mitochondrial disease less likely, but not excluded. Consider nuclear gene testing.
Consult a geneticist or neurologist if you or a family member experience unexplained symptoms suggestive of mitochondrial disease, such as muscle weakness, seizures, or developmental delays.
Limitations
- ⚠Does not detect large deletions or rearrangements (requires additional testing)
- ⚠May not detect mutations in nuclear genes affecting mitochondrial function
- ⚠Heteroplasmic variants may be missed if below detection threshold
- ⚠Results may be inconclusive in some cases
Risks & Considerations
- ●Minimal risk of bleeding or infection at the blood draw site
- ●Tissue biopsy carries a small risk of bleeding or infection
Interfering Factors
- ●Contamination of sample with nuclear DNA
- ●Heteroplasmy (mixed populations of mtDNA)
- ●Low-quality DNA due to improper storage
- ●Recent blood transfusion (for blood samples)
Compare With Similar Tests
| Test | Mitochondrial Genome Sequencing | Nuclear Mitochondrial Gene Panel | Whole Exome Sequencing | Mitochondrial DNA Deletion Analysis |
|---|---|---|---|---|
| Comparison | Mitochondrial Genome Sequencing |
Frequently Asked Questions
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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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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