POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test
Short Name: POLG2 PEO Type 4 NGS Test
Also known as: PEO with mitochondrial deletions type 4, POLG2-related progressive external ophthalmoplegia, Autosomal dominant PEO type 4
POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. 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
To identify pathogenic mutations in the POLG2 gene for diagnosing Progressive external ophthalmoplegia type 4, autosomal dominant, and guiding clinical management and genetic counseling.
- Test Code
- 1797
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Genetic counseling session recommended to draw a pedigree chart. Provide clinical history and family details.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.
Report Delivery
Sample transported at ambient room temperature. Apply pressure to puncture site to prevent bruising.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the POLG2 gene for diagnosing Progressive external ophthalmoplegia type 4, autosomal dominant, and guiding clinical management and genetic counseling.
How to Prepare
- No fasting required
- Ensure sample is labeled correctly
- Use aseptic technique
- Store samples at room temperature
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This NGS test is essential for confirming POLG2 mutations in patients with PEO, enabling early intervention and family genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled samples
- Contaminated samples
Understanding Your Results
No pathogenic variants
Normal result; POLG2 mutations not detected. Clinical correlation needed if symptoms persist.
Pathogenic variant detected
Abnormal result; confirms diagnosis of PEO type 4. Genetic counseling and family testing recommended.
Variant of uncertain significance
Further testing or family studies may be required for classification.
If experiencing symptoms like ptosis, ophthalmoplegia, muscle weakness, or if family history suggests PEO, consult a neurologist or geneticist for evaluation and test recommendation.
Limitations
- ⚠May not detect all genetic variations
- ⚠Variants of uncertain significance may be reported
- ⚠Does not rule out other genetic causes of PEO
Risks & Considerations
- ●Minimal risks from blood draw: bruising, infection, or fainting
- ●No significant risks from genetic testing itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test | POLG Gene Sequencing | Mitochondrial DNA Analysis | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test |
Frequently Asked Questions
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