ACTA1 Gene Myopathy with Fiber-Type Disproportion NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neuromuscular Disorders
The ACTA1 Gene Myopathy with Fiber-Type Disproportion NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the ACTA1 gene, which encodes alpha-skeletal muscle actin – a critical protein component of muscle fibers. When mutations occur in this gene, they can lead to congenital myopathies characterized by abnormal muscle fiber development and disproportionate fiber types.
What Does This Test Measure?
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire ACTA1 gene for:
- Point mutations affecting muscle actin production
- Deletions and insertions disrupting gene function
- Missense mutations causing structural abnormalities
- Nonsense mutations leading to truncated proteins
- Splice-site variants affecting RNA processing
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Congenital muscle weakness and hypotonia
- Delayed motor milestones in infancy
- Progressive muscle wasting and weakness
- Family history of neuromuscular disorders
- Abnormal muscle biopsy showing fiber-type disproportion
- Unexplained respiratory difficulties in newborns
- Feeding difficulties and poor weight gain in infants
Clinical Benefits of Genetic Testing
Undergoing the ACTA1 Gene Myopathy test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out ACTA1-related myopathies
- Treatment Guidance: Informs appropriate therapeutic interventions
- Prognostic Information: Helps predict disease progression
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Enables proactive management strategies
- Research Contribution: Advances understanding of rare neuromuscular conditions
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates the presence of pathogenic ACTA1 mutations, confirming diagnosis of congenital myopathy with fiber-type disproportion
- Negative Result: Suggests ACTA1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation
- Carrier Status: Determines if individuals carry mutations without showing symptoms
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 cities. Our network of certified genetic testing centers ensures accessibility and convenience for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. The ACTA1 Gene Myopathy with Fiber-Type Disproportion NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized treatment approaches. Our team of genetic specialists and neurologists are ready to support you through every step of the testing process.
Ready to schedule your test? Call 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 receiving the comprehensive care you deserve.
