POLG Gene Alper's Syndrome NGS Genetic Test
Short Name: POLG NGS Test
Also known as: POLG Gene Sequencing, Alpers Syndrome NGS Panel, Mitochondrial DNA Polymerase Gamma Test
POLG Gene Alper's Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Reports are typically available within 3 to 4 weeks after 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 this test is to identify pathogenic variants in the POLG gene that cause Alper's syndrome. It aids in confirming a clinical diagnosis, differentiating from other mitochondrial disorders, assessing disease risk in symptomatic individuals, and providing information for reproductive planning and family counseling.
- Test Code
- 6266
- CPT Code
- 81407
- ICD Code
- G31.81
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Reports are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended before the test to discuss implications.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. The procedure is quick and routine.
Report Delivery
You may resume normal activities immediately. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the POLG gene that cause Alper's syndrome. It aids in confirming a clinical diagnosis, differentiating from other mitochondrial disorders, assessing disease risk in symptomatic individuals, and providing information for reproductive planning and family counseling.
How to Prepare
- No fasting required
- Inform the lab if you have had a blood transfusion or bone marrow transplant
- Ensure the EDTA tube is properly labeled
- Sample should be transported at room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Alper's syndrome is a severe mitochondrial disorder. Early genetic confirmation is crucial for management and family counseling. This NGS test provides comprehensive analysis of the POLG gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Clotted sample
- Incorrect tube (e.g., heparin instead of EDTA)
- Sample received after prolonged delay without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Alper's syndrome or POLG-related disorder. Genetic counseling is recommended.
Likely pathogenic variant detected
Highly suggestive of disease; further testing may be needed for confirmation.
Variant of uncertain significance (VUS)
Cannot determine if the variant is disease-causing. Additional family studies or functional assays may be required.
No pathogenic variants detected
Does not rule out Alper's syndrome; other genetic causes may be considered.
If you or your child experience seizures, developmental regression, muscle weakness, or liver dysfunction, consult a neurologist or geneticist. Early diagnosis can help manage symptoms and provide family planning options.
Limitations
- ⚠This test only analyzes the POLG gene; mutations in other genes may cause similar symptoms
- ⚠Large deletions/duplications may not be detected by standard NGS
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Does not assess mitochondrial DNA (mtDNA) directly
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Recent blood transfusion (within 2 weeks) may dilute patient DNA
- ●Bone marrow transplantation can affect results
- ●Contamination during sample collection
- ●Insufficient DNA quantity or quality
Compare With Similar Tests
| Test | POLG Gene Alper's Syndrome NGS Genetic Test | Mitochondrial DNA Sequencing | Whole Exome Sequencing | POLG Gene Targeted Mutation Analysis |
|---|---|---|---|---|
| Comparison | POLG Gene Alper's Syndrome NGS Genetic Test | Analyzes mtDNA for mutations, while POLG test focuses on nuclear gene. Both may be needed for comprehensive mitochondrial disease evaluation. | Broader test covering all exons, but more expensive and may identify incidental findings. POLG test is targeted and more cost-effective. | Only screens for known common mutations, whereas NGS detects novel variants as well. |
Frequently Asked Questions
What is Alper's syndrome?
How is the POLG gene test performed?
What is the cost of the test?
Is fasting required before the test?
How long does it take to get results?
Can this test detect all POLG mutations?
Who should consider this test?
What does a negative result mean?
Is genetic counseling included?
Can this test be done on children?
Is home sample collection available?
What is the sample type required?
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