Mitochondrial Mutation Detection Comprehensive Panel Test
Short Name: Mitochondrial Panel Test
Also known as: Mitochondrial DNA Mutation Panel, mtDNA Mutation Test, Comprehensive Mitochondrial Genetic Panel
Mitochondrial Mutation Detection Comprehensive Panel Test test available at DNA Labs India for ₹30,000. Uses PCR, Sequencing on Whole blood in EDTA tube samples. Results in Results are typically available within 5 days from sample receipt. Online reports can be accessed via the portal.. 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
The purpose of the Mitochondrial Mutation Detection Comprehensive Panel Test is to detect mutations in specific mitochondrial genes associated with mitochondrial disorders. This helps in confirming diagnoses, understanding disease mechanisms, and guiding clinical management. The test targets genes such as ND1, ND4, ND5, ND6, TL1, MCTYB1, ATP6, and ATP8, which are commonly implicated in mitochondrial diseases.
- Test Code
- 1250
- Price
- ₹30,000
- Sample Type
- Whole blood in EDTA tube
- Result Time
- Results are typically available within 5 days from sample receipt. Online reports can be accessed via the portal.
- Fasting Required
- No
- Method
- PCR, Sequencing
Sample Collection
Ensure the patient is well-hydrated. Fasting is not required, but a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. Avoid strenuous exercise before sample collection.
Method: Venipuncture
Laboratory Analysis
A phlebotomist will collect 4 mL of whole blood using a lavender top (EDTA) tube via venipuncture. Ensure proper labeling and handling.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store the sample at room temperature for up to 6 hours, then refrigerate. Ship refrigerated; do not freeze.
Timeline: Results are typically available within 5 days from sample receipt. Online reports can be accessed via the portal.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Mitochondrial Mutation Detection Comprehensive Panel Test is to detect mutations in specific mitochondrial genes associated with mitochondrial disorders. This helps in confirming diagnoses, understanding disease mechanisms, and guiding clinical management. The test targets genes such as ND1, ND4, ND5, ND6, TL1, MCTYB1, ATP6, and ATP8, which are commonly implicated in mitochondrial diseases.
How to Prepare
- Use a lavender top (EDTA) tube for blood collection
- Collect 4 mL of whole blood, minimum 2 mL
- Ship refrigerated; do not freeze
- Include the Genomics Clinical Information Requisition Form (Form 20) with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing mitochondrial disorders, which can present with diverse symptoms. Early detection through comprehensive genetic analysis aids in personalized management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolyzed or clotted
- Insufficient volume (less than 2 mL)
- Improper tube or container used
- Missing or incomplete requisition form
Understanding Your Results
Consult a healthcare provider if you experience symptoms such as unexplained muscle weakness, neurological issues, or multi-system problems, especially with a family history of mitochondrial disorders. If the test returns positive, seek referral to a clinical geneticist for management.
Limitations
- ⚠May not detect all mitochondrial mutations or variants of unknown significance
- ⚠Does not cover nuclear DNA mutations related to mitochondrial disorders
- ⚠Results require clinical correlation and may need confirmatory testing
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection or dizziness
- ●No significant risks associated with the genetic analysis itself
Interfering Factors
- ●Hemolyzed or insufficient blood sample
- ●Recent blood transfusions may affect results
- ●Improper sample storage or handling
- ●Contamination during sample collection
Compare With Similar Tests
| Test | Mitochondrial Mutation Detection Comprehensive Panel Test | Whole Exome Sequencing | Mitochondrial DNA Deletion Test | Nuclear Gene Panel for Mitochondrial Disorders | Biochemical Enzyme Assays |
|---|---|---|---|---|---|
| Comparison | Mitochondrial Mutation Detection Comprehensive Panel Test |
Frequently Asked Questions
What is the Mitochondrial Mutation Detection Comprehensive Panel Test?
Who should consider this test?
How is the sample collected?
Is fasting required before the test?
What genes are analyzed in this test?
How long does it take to get results?
What does a positive result mean?
Can this test diagnose all mitochondrial disorders?
Is home sample collection available?
What is the cost of the test?
Are there any risks associated with the test?
How should I prepare for the test?
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