ACTA1 Gene Myopathy Scapulohumeroperoneal NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Muscle Disorders
The ACTA1 Gene Myopathy Scapulohumeroperoneal NGS Genetic DNA Test represents a breakthrough in neuromuscular disease diagnosis, offering precise detection of genetic mutations responsible for this rare inherited condition. Utilizing advanced Next-Generation Sequencing technology, this test provides unparalleled accuracy in identifying ACTA1 gene variations that lead to progressive muscle weakness and degeneration.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the ACTA1 gene, which encodes alpha-skeletal muscle actin – a critical protein component of muscle fibers. The test identifies:
- Point mutations in the ACTA1 gene coding regions
- Missense, nonsense, and frameshift mutations
- Genetic variations affecting actin filament assembly
- Inheritance patterns for family risk assessment
- Specific mutations linked to scapulohumeroperoneal distribution
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in shoulder girdle muscles
- Difficulty raising arms above shoulder level
- Weakness in upper arm and lower leg muscles
- Family history of inherited muscle disorders
- Unexplained muscle atrophy or wasting
- Delayed motor milestones in childhood
- Muscle biopsy showing nemaline rods or other abnormalities
Clinical Benefits of Genetic Testing
Undergoing the ACTA1 Gene Myopathy test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of muscle weakness
- Family Planning: Enables informed reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression
- Genetic Counseling: Supports family members at risk
- Research Participation: Contributes to medical advancements
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of ACTA1 gene mutation, confirming diagnosis
- Negative Result: Suggests other genetic or non-genetic causes for symptoms
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ACTA1 Gene Myopathy Scapulohumeroperoneal NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Review of previous neurological evaluations
- Discussion of testing implications with family members
Nationwide Testing Availability
We proudly offer this advanced genetic testing service across the United States, with convenient locations in:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Take Control of Your Genetic Health Today
Don’t let uncertainty about your muscle symptoms continue. The ACTA1 Gene Myopathy Scapulohumeroperoneal NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. Our team of genetic specialists and neurologists is ready to guide you through every step of the testing process.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and securing your family’s future.
