TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test
Short Name: TYMP MNGIE NGS Genetic Test
Also known as: TYMP Gene NGS Test, MNGIE Genetic Test, Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Gene Test
TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy 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 Reports are typically available in 3 to 4 weeks after the sample reaches 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
This test is intended to identify pathogenic variants in the TYMP gene using next-generation sequencing. It is used to support a diagnosis of MNGIE without leukoencephalopathy when a patient has compatible gastrointestinal and neurological symptoms. The test result must be interpreted together with clinical examination and biochemical testing findings.
- Test Code
- 4335
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended to draw a pedigree chart of family members affected by MNGIE.
Method: Peripheral blood venipuncture, FTA card spot collection, or submission of extracted DNA
Laboratory Analysis
A small blood sample is drawn by venipuncture, or a FTA card blood spot is collected. Extracted DNA can also be submitted for analysis.
Report Delivery
No post-collection precautions are needed. You can resume normal activities immediately.
Timeline: Reports are typically available in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
This test is intended to identify pathogenic variants in the TYMP gene using next-generation sequencing. It is used to support a diagnosis of MNGIE without leukoencephalopathy when a patient has compatible gastrointestinal and neurological symptoms. The test result must be interpreted together with clinical examination and biochemical testing findings.
How to Prepare
- No fasting required.
- Blood sample should be collected in an EDTA tube.
- If using FTA card, apply one drop of blood and air dry completely.
- Extracted DNA should be labeled with patient name, date of collection, and sample ID.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A detailed genetic counselling session before testing helps the patient understand the implications of a TYMP gene mutation and allows the family history to be documented as a pedigree chart."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient quantity of blood or extracted DNA
- Unlabelled or mislabelled sample
- Leaking or contaminated sample
- Degraded DNA with no amplification
Understanding Your Results
Pathogenic variant detected
Confirms the molecular diagnosis of TYMP-related MNGIE when clinical features are consistent.
Likely pathogenic variant detected
Highly suggestive of pathogenicity; clinical correlation and sometimes family segregation are recommended.
Variant of uncertain significance (VUS)
Functional or co-segregation studies may be needed to clarify clinical significance.
No pathogenic variant detected
A negative result does not exclude all genetic causes; other genes or conditions may need to be considered.
Consult a neurologist or clinical geneticist if the patient has chronic gastrointestinal complaints, unexplained neuropathy, myopathy, or cognitive decline, or if a family member has been diagnosed with MNGIE.
Limitations
- ⚠This test only analyzes the TYMP gene and does not detect mutations in other genes that may cause similar symptoms.
- ⚠NGS may not reliably detect large deletions, deep intronic variants, repeat expansions, or mitochondrial genome variants.
- ⚠Variants of uncertain significance may require further family testing or additional biochemical evaluation.
Risks & Considerations
- ●No known physical risks beyond routine blood collection.
- ●Possible mild pain, bruising, or discomfort at the venipuncture site.
- ●Psychological or emotional impact of receiving a genetic result.
- ●Potential need for further family testing or genetic counselling.
Interfering Factors
- ●Low-quality or degraded DNA sample
- ●Contamination with another person's biological material
- ●Recent allogeneic blood transfusion or bone marrow transplantation
- ●Incomplete patient identifiers or sample mismatch
Compare With Similar Tests
| Test | TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test | |||
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| Comparison | TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test |
Frequently Asked Questions
What is the cost of the TYMP gene MNGIE NGS genetic test at DNA Labs India?
What is MNGIE without leukoencephalopathy?
Which gene is analysed in this test?
What sample types are accepted for this test?
Is fasting required before the test?
When will I get the test report?
Will I receive raw data files with my report?
Is home sample collection available?
Who should consider taking this test?
What is NGS technology?
Can this test detect leukoencephalopathy?
How should the test results be interpreted?
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