MTTL1 Gene MELAS Syndrome NGS Genetic DNA Test
Comprehensive Mitochondrial Disorder Genetic Testing
The MTTL1 Gene MELAS Syndrome NGS Genetic DNA Test represents a breakthrough in mitochondrial disorder diagnostics, offering precise detection of mutations in the MT-TL1 gene responsible for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive insights into one of the most complex inherited metabolic disorders affecting multiple organ systems.
What Does This Test Measure?
This advanced genetic test specifically targets the MT-TL1 gene located in mitochondrial DNA, which encodes the transfer RNA for leucine. The test identifies:
- Pathogenic mutations in the MT-TL1 gene, particularly the m.3243A>G mutation
- Other rare variants associated with MELAS syndrome
- Heteroplasmy levels indicating the proportion of mutated mitochondrial DNA
- Genetic markers predictive of disease severity and progression
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Recurrent stroke-like episodes without vascular risk factors
- Unexplained neurological symptoms including seizures, migraines, or cognitive decline
- Elevated lactate levels in blood or cerebrospinal fluid
- Sensorineural hearing loss developing in childhood or early adulthood
- Diabetes mellitus with unusual presentation or early onset
- Family history of mitochondrial disorders or unexplained multi-system disease
- Cardiac abnormalities including cardiomyopathy or conduction defects
- Gastrointestinal symptoms such as dysmotility or pseudo-obstruction
Clinical Benefits of Testing
Early genetic diagnosis through the MTTL1 Gene MELAS Syndrome test provides numerous clinical advantages:
- Accurate Diagnosis: Differentiates MELAS from other mitochondrial disorders and similar conditions
- Personalized Treatment: Guides targeted therapeutic interventions and medication selection
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Prognostic Information: Helps predict disease progression and potential complications
- Preventive Care: Facilitates early intervention for associated conditions like diabetes and hearing loss
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and physicians:
- Positive Result: Indicates the presence of a pathogenic MT-TL1 mutation, confirming MELAS syndrome diagnosis
- Negative Result: Suggests that MT-TL1 mutations are not detected, though other mitochondrial disorders may still be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Heteroplasmy Level: Provides information about mutation load, which correlates with disease severity
Test Pricing Information
| Test Name | Regular Price | Discount Price |
|---|---|---|
| MTTL1 Gene MELAS Syndrome NGS Genetic DNA Test | $700 USD | $500 USD |
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 network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders impact your quality of life. Our comprehensive MTTL1 Gene MELAS Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and personalized care planning. With results available in 3-4 weeks and sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated genetic specialists are ready to guide you through every step of the testing process and help you understand your results.
