POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test
Short Name: POLG MNGIE NGS Test
Also known as: POLG gene sequencing, MNGIE without leukoencephalopathy genetic test, POLG-related mitochondrial neurogastrointestinal encephalopathy NGS
POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics analysis and variant interpretation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued in 3 to 4 weeks from the date the sample is received by the laboratory.. 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 is to detect pathogenic or likely pathogenic variants in the POLG gene in a patient with clinical suspicion of mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy. Genetic confirmation supports early diagnosis, informs clinical management, enables targeted testing in family members, and provides a basis for recurrence-risk counselling.
- Test Code
- 4341
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued in 3 to 4 weeks from the date the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatics analysis and variant interpretation
Sample Collection
No fasting is required. Pre-test genetic counselling to draw a pedigree chart is recommended. The patient should bring clinical history, prior imaging or biochemical reports, and details of affected family members.
Method: Peripheral venous blood draw or dried blood spot on FTA card
Laboratory Analysis
A blood sample is collected in an EDTA vacutainer, or a blood spot is spotted onto an FTA card. The procedure takes only a few minutes.
Report Delivery
No restrictions are needed after sample collection. The report will be delivered in 3-4 weeks and should be discussed with the referring physician or genetic counsellor.
Timeline: Reports are issued in 3 to 4 weeks from the date the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose is to detect pathogenic or likely pathogenic variants in the POLG gene in a patient with clinical suspicion of mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy. Genetic confirmation supports early diagnosis, informs clinical management, enables targeted testing in family members, and provides a basis for recurrence-risk counselling.
How to Prepare
- Write the patient's full name, date of birth and collection date clearly on the sample.
- If blood is collected in EDTA, do not freeze. Keep at 2-8°C until transport.
- If FTA card is used, allow the blood spot to air-dry completely before sealing.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A POLG-related diagnosis can mimic common gastrointestinal and neurological disorders; targeted genetic testing brings diagnostic clarity, avoids unnecessary procedures, and enables informed family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- FTA card exposed to moisture or not dried properly
- Insufficient blood or DNA quantity
- Mislabeled or unmatched sample
- Sample received beyond the acceptable stability period
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected
Molecular diagnosis is supported in the appropriate clinical context; genetic counselling and targeted family testing are recommended.
Variant of Uncertain Significance (VUS)
Insufficient evidence to classify as disease-causing; additional segregation or functional studies may be needed.
Negative result
No clinically significant POLG variant detected in the regions tested; a broader mitochondrial or exome-based panel may be considered.
Benign variant detected
Variant is consistent with normal population variation and is unlikely to be disease-causing.
If you or a family member has symptoms suggestive of a POLG-related mitochondrial disorder, or if you have a known family history of POLG variants, consult a neurologist or clinical geneticist to discuss genetic testing and post-test counselling.
Limitations
- ⚠This NGS test is limited to coding exons and flanking intronic regions of the POLG gene; deep intronic or regulatory variants are not analysed.
- ⚠Large deletions, duplications or structural rearrangements may not be reliably detected by this targeted NGS assay.
- ⚠A negative result does not exclude a POLG-related disorder or another mitochondrial disease.
- ⚠Variant reclassification may occur over time as scientific knowledge evolves.
Risks & Considerations
- ●Slight pain, bruising or discomfort at the blood collection site
- ●Rarely, bleeding or infection at the venepuncture site
Interfering Factors
- ●Low DNA quality or quantity can cause amplification failure
- ●Variants in GC-rich or repetitive regions may be undercalled by NGS
- ●Somatic mosaicism or clonal hematopoiesis may affect variant allele fraction
- ●Sample mislabelling or contamination can invalidate results
Compare With Similar Tests
| Test | POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test | ||
|---|---|---|---|
| Comparison | POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test |
Frequently Asked Questions
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