POLG Gene Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant NGS Genetic Test
Short Name: POLG PEO NGS Test
Also known as: POLG PEO Genetic Test, Progressive External Ophthalmoplegia NGS Test, Mitochondrial deletions type 1 POLG test
POLG Gene Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the POLG gene associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions type 1. It supports clinical diagnosis, helps differentiate POLG-related PEO from other neuromuscular and mitochondrial disorders, and enables family screening and genetic counselling.
- Test Code
- 4487
- 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
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counselling session is recommended before testing to draw a pedigree chart of family members and discuss the implications of the result.
Method: Venipuncture / FTA blood spot / DNA extraction
Laboratory Analysis
Blood sample is collected by venipuncture; for FTA card, one drop of blood is applied to the marked circles. The procedure is non-invasive and generally painless.
Report Delivery
You may resume normal activities immediately after sample collection. Reports will be shared online once available.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the POLG gene associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions type 1. It supports clinical diagnosis, helps differentiate POLG-related PEO from other neuromuscular and mitochondrial disorders, and enables family screening and genetic counselling.
How to Prepare
- Use an EDTA tube for whole blood collection
- For FTA card, apply one drop of blood on the marked circles and allow it to air dry
- Extracted DNA samples should be sent in a sterile, clearly labelled vial
- All samples must include patient name, date, and time of collection
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for POLG-related progressive external ophthalmoplegia should be interpreted in the context of family history and clinical presentation. Pre-test genetic counselling helps patients understand the inheritance pattern and reproductive implications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled specimen
- Hemolyzed or clotted blood sample
- Heparinized blood sample
- FTA card not completely dried
- Leaked or damaged sample during transport
Understanding Your Results
Pathogenic variant detected
Confirms the molecular diagnosis of autosomal dominant POLG-related progressive external ophthalmoplegia with mitochondrial deletions type 1. Genetic counselling and family screening are recommended.
Likely pathogenic variant detected
Consistent with the clinical diagnosis; additional family segregation or functional studies may be considered. Genetic counselling is advised.
No pathogenic variant detected
Makes POLG-related PEO less likely, but other nuclear genes or mitochondrial DNA abnormalities may still be responsible.
Variant of uncertain significance (VUS)
The clinical significance is not yet known. Family segregation studies and clinical correlation are required before making a definitive diagnosis.
Consult a neurologist or clinical geneticist if you or a family member have persistent or progressive drooping eyelids, double vision, difficulty moving the eyes, swallowing difficulty, unexplained muscle weakness, fatigue, or limb coordination problems, especially with a family history of progressive external ophthalmoplegia or mitochondrial disease.
Limitations
- ⚠This test analyses the POLG gene and does not directly measure mitochondrial DNA deletions
- ⚠Large structural rearrangements, copy number variants, or deep intronic mutations may not be detected by this NGS assay
- ⚠Variants of uncertain significance may be reported and may require further family studies
- ⚠A negative result does not exclude other genetic or mitochondrial causes of progressive external ophthalmoplegia
Risks & Considerations
- ●Minimal pain or bruising at the venipuncture site
- ●Rare risk of bleeding or infection
- ●Dizziness or vasovagal reaction during blood collection
Interfering Factors
- ●Recent allogeneic blood transfusion may affect DNA analysis
- ●Heparinized blood samples may inhibit PCR/sequencing reactions
- ●Insufficient or degraded DNA may require repeat testing
- ●Contamination during sample collection or handling
Frequently Asked Questions
What is this POLG gene NGS genetic test?
What is the cost of the POLG PEO NGS test in India?
What sample is required for this test?
Do I need to come to the lab for sample collection?
Is fasting required before the test?
What is the turnaround time for results?
What are the common symptoms of POLG-related PEO?
Who should consider this test?
Will the test detect mitochondrial DNA deletions?
Can I receive raw data along with my report?
Is genetic counselling necessary before this test?
Are results informative for family risk assessment?
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