MELAS Mutation Detection Test – Comprehensive Mitochondrial DNA Analysis
Understanding MELAS Syndrome and Genetic Testing
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) syndrome represents a progressive neurodegenerative disorder caused by mutations in mitochondrial DNA. This complex condition affects multiple body systems, primarily targeting the brain and muscles, leading to severe neurological symptoms and metabolic disturbances. Our MELAS Mutation Detection Test provides definitive genetic confirmation for individuals suspected of having this mitochondrial disorder, enabling accurate diagnosis and personalized treatment approaches.
What Does the MELAS Test Detect?
This advanced genetic screening specifically targets mitochondrial DNA mutations associated with MELAS syndrome, including:
- A3243G Mutation: The most common mutation responsible for approximately 80% of MELAS cases
- Other Mitochondrial DNA Variants: Additional mutations in tRNA genes affecting energy production
- Heteroplasmy Levels: Detection of mutation load percentage in different tissues
- Maternal Inheritance Patterns: Identification of mitochondrial DNA transmission risks
Who Should Consider MELAS Genetic Testing?
This test is recommended for individuals experiencing symptoms suggestive of mitochondrial disorders, including:
- Recurrent stroke-like episodes without vascular risk factors
- Progressive neurological deterioration with seizures and cognitive decline
- Elevated lactic acid levels in blood or cerebrospinal fluid
- Muscle weakness, exercise intolerance, and fatigue
- Sensorineural hearing loss developing in childhood or early adulthood
- Diabetes mellitus with unusual presentation
- Family history of mitochondrial disorders or unexplained neurological conditions
- Children with developmental delays and metabolic abnormalities
Clinical Benefits of MELAS Testing
Early genetic diagnosis through MELAS mutation detection offers numerous advantages:
- Accurate Diagnosis: Differentiate MELAS from other neurological conditions with similar presentations
- Treatment Guidance: Inform appropriate therapeutic interventions and symptom management
- Prognostic Information: Understand disease progression and potential complications
- Family Planning: Provide genetic counseling for reproductive decisions
- Preventive Care: Implement strategies to reduce stroke-like episode frequency
- Clinical Trial Eligibility: Access to emerging mitochondrial disease treatments
Understanding Your Test Results
Our comprehensive reporting provides clear interpretation of your genetic findings:
- Positive Result: Confirms MELAS diagnosis and identifies specific mitochondrial DNA mutation
- Negative Result: Suggests alternative diagnoses but doesn’t completely rule out mitochondrial disease
- Heteroplasmy Percentage: Indicates mutation load which correlates with symptom severity
- Clinical Correlation: Results are interpreted in context of clinical symptoms and family history
- Genetic Counseling: Recommended for all positive results to discuss implications
Test Pricing and Availability
| Test Option | Price (USD) |
|---|---|
| Discount Price | $188 |
| Regular Price | $276 |
Nationwide Testing Availability
GGC DNA provides comprehensive MELAS testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Book Your MELAS Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our experienced genetic counselors and neurologists are available to discuss your testing needs and provide comprehensive support throughout the process. Contact us at +1(267) 388-9828 to schedule your appointment or book online through our secure patient portal.
Turnaround Time: Sample received by Monday 9:00 AM | Results delivered by Friday
Sample Requirements: 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
