MTTP Gene MERRF Syndrome NGS Genetic DNA Test
Comprehensive Mitochondrial Disorder Diagnosis
The MTTP Gene MERRF Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic testing, specifically designed to identify mutations in the MT-TP gene that cause Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) syndrome. This progressive mitochondrial disorder affects multiple body systems, primarily targeting the nervous system and muscles. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting these critical genetic variations, enabling early intervention and personalized treatment approaches.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the MT-TP gene located in mitochondrial DNA, which encodes for transfer RNA essential for mitochondrial protein synthesis. The test identifies:
- Point mutations in the MT-TP gene, particularly the common m.8344A>G mutation
- Other pathogenic variants associated with MERRF syndrome
- Mitochondrial DNA deletions and duplications affecting neurological function
- Genetic markers that impact energy production in nerve and muscle cells
Who Should Consider This Test
This genetic test is recommended for individuals experiencing symptoms suggestive of mitochondrial disorders, including:
- Progressive myoclonus (muscle twitching or jerking)
- Generalized epilepsy or seizure disorders
- Cerebellar ataxia with coordination difficulties
- Muscle weakness and exercise intolerance
- Hearing loss developing in childhood or adolescence
- Family history of mitochondrial disorders or unexplained neurological symptoms
- Developmental delays in children with associated neurological symptoms
Benefits of MTTP Gene MERRF Syndrome Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out MERRF syndrome with high precision
- Early Intervention: Enables proactive management before significant neurological damage occurs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of targeted therapeutic strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of mitochondrial disorders
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors and neurologists. Possible outcomes include:
- Positive Result: Indicates the presence of pathogenic MT-TP gene mutations associated with MERRF syndrome, requiring comprehensive neurological evaluation and management
- Negative Result: Suggests that MERRF syndrome is unlikely, though other mitochondrial disorders may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Provides information about inheritance patterns and family risk assessment
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your MTTP Gene MERRF Syndrome test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Neurological evaluation by a qualified specialist
- Discussion of potential implications and management options
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art genetic testing facilities ensure consistent, reliable results regardless of your location.
Take Control of Your Neurological Health
Don’t let unexplained neurological symptoms compromise your quality of life. The MTTP Gene MERRF Syndrome NGS Genetic DNA Test provides the clarity needed for accurate diagnosis and effective management. Our team of neurological genetics specialists is ready to guide you through the testing process and help interpret your results for optimal health outcomes.
Ready to schedule your test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and developing a personalized treatment plan.
