MT-TL1 Gene MELAS Syndrome NGS Genetic DNA Test
Comprehensive Mitochondrial Disorder Genetic Testing
The MT-TL1 Gene MELAS Syndrome NGS Genetic DNA Test represents a breakthrough in mitochondrial disorder diagnosis, utilizing advanced next-generation sequencing technology to detect mutations in the mitochondrial MT-TL1 gene. This specialized genetic analysis provides critical insights into mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome), a progressive neurological condition affecting multiple body systems.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the mitochondrial MT-TL1 gene, which encodes for mitochondrial transfer RNA leucine. The test identifies:
- Point mutations in the MT-TL1 gene, particularly the m.3243A>G mutation
- Other pathogenic variants affecting mitochondrial protein synthesis
- Heteroplasmy levels (mixture of mutant and normal mitochondrial DNA)
- Mutation load correlation with disease severity
Through comprehensive NGS analysis, the test provides detailed information about mitochondrial DNA integrity and function, enabling precise diagnosis of MELAS syndrome and related mitochondrial disorders.
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Recurrent stroke-like episodes without vascular risk factors
- Progressive neurological deterioration with seizures
- Muscle weakness and exercise intolerance
- Developmental delays in children
- Sensorineural hearing loss
- Diabetes mellitus with neurological symptoms
- Family history of mitochondrial disorders
- Unexplained lactic acidosis
- Migraine headaches with neurological deficits
Clinical Benefits of Genetic Testing
Undergoing the MT-TL1 Gene MELAS Syndrome test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out MELAS syndrome with high accuracy
- Personalized Treatment: Guides targeted therapeutic interventions
- Family Planning: Informs reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease progression and complications
- Early Intervention: Enables proactive management of symptoms
- Research Contribution: Advances understanding of mitochondrial diseases
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates presence of pathogenic MT-TL1 mutation, confirming MELAS syndrome diagnosis
- Negative Result: Suggests absence of common MT-TL1 mutations, though other mitochondrial disorders may still be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Heteroplasmy Level: Indicates the percentage of mutant mitochondrial DNA, which correlates with disease severity
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Neurological Health
Don’t let unexplained neurological symptoms compromise your quality of life. The MT-TL1 Gene MELAS Syndrome NGS Genetic DNA Test provides the answers you need for proper diagnosis and targeted treatment. Our team of genetic specialists and neurologists is ready to guide you through the testing process and help interpret your results.
Book your genetic test today by calling +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and developing an effective management plan for mitochondrial disorders.
