TYMP Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy NGS Genetic DNA Test
Understanding Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) syndrome represents a rare autosomal recessive disorder characterized by progressive gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia, and leukoencephalopathy. The TYMP gene NGS genetic DNA test specifically targets the identification of mutations responsible for MNGIE syndrome without leukoencephalopathy presentation, providing crucial diagnostic clarity for patients with complex neurological and gastrointestinal symptoms.
What This Advanced Genetic Test Detects
This comprehensive next-generation sequencing test analyzes the entire TYMP (thymidine phosphorylase) gene to identify pathogenic variants that disrupt normal mitochondrial function. The test specifically detects:
- Point mutations, insertions, and deletions in the TYMP gene
- Compound heterozygous or homozygous mutations affecting thymidine phosphorylase activity
- Genetic variants leading to toxic metabolite accumulation (thymidine and deoxyuridine)
- Mutations associated with mitochondrial DNA depletion and multi-system organ damage
Who Should Consider This Genetic Testing
This specialized genetic test is recommended for individuals presenting with the following clinical features:
- Unexplained gastrointestinal dysmotility including chronic diarrhea, constipation, or pseudo-obstruction
- Progressive peripheral neuropathy with sensory and motor involvement
- Ophthalmoplegia or ptosis without leukoencephalopathy findings
- Significant, unexplained weight loss and cachexia
- Family history of mitochondrial disorders or consanguineous parents
- Progressive neurological deterioration with gastrointestinal involvement
Clinical Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis through this test provides numerous clinical advantages:
- Accurate diagnosis enabling targeted therapeutic interventions
- Comprehensive genetic counseling for family planning decisions
- Early intervention strategies to manage symptoms and improve quality of life
- Clear differentiation from other mitochondrial disorders with similar presentations
- Opportunity for carrier testing in family members
- Access to specialized multidisciplinary care and support services
Understanding Your Genetic Test Results
Your test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Identifies pathogenic mutations in the TYMP gene, confirming MNGIE syndrome diagnosis and guiding appropriate management strategies
- Negative Result: No pathogenic variants detected in the TYMP gene, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring additional family studies and clinical correlation
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps for medical management.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | TYMP Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements and Preparation
Before undergoing this specialized genetic testing, patients should complete:
- Comprehensive clinical history documentation focusing on neurological and gastrointestinal symptoms
- Genetic counseling session to discuss test implications and create detailed family pedigree
- Review of potential insurance coverage and out-of-pocket costs
- Discussion of result interpretation and potential impact on family members
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of collection location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your neurological and gastrointestinal symptoms delay proper diagnosis and treatment. Our specialized TYMP gene testing provides the clarity needed for effective medical management and informed family planning decisions. Contact our genetic specialists today to schedule your comprehensive evaluation.
Call or WhatsApp: +1(267) 388-9828 to book your TYMP Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy NGS Genetic DNA Test and take the first step toward definitive diagnosis and personalized care.
