ATP2A1 Gene Brody Myopathy NGS Genetic DNA Test
Comprehensive Genetic Testing for Brody Myopathy
The ATP2A1 Gene Brody Myopathy NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ATP2A1 gene, which encodes the sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) protein. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the ATP2A1 gene, offering crucial insights for individuals suspected of having Brody myopathy—a rare autosomal recessive muscle disorder characterized by impaired muscle relaxation and exercise-induced stiffness.
What This Test Measures and Detects
This advanced genetic test specifically targets and sequences the entire ATP2A1 gene to identify pathogenic variants, including:
- Point mutations affecting calcium pump function
- Insertions and deletions disrupting SERCA1 protein structure
- Missense mutations altering calcium transport efficiency
- Splice site variants affecting gene expression
- Frameshift mutations leading to truncated proteins
Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
- Progressive muscle stiffness and cramping during exercise
- Delayed muscle relaxation following contraction
- Muscle weakness that worsens with physical activity
- Family history of similar neuromuscular symptoms
- Unexplained muscle fatigue and exercise intolerance
- Childhood-onset muscle stiffness without other explanations
Clinical Benefits of Genetic Testing
Undergoing the ATP2A1 Gene Brody Myopathy NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Brody myopathy with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions
- Genetic Counseling: Provides essential information for family planning
- Prognostic Insights: Helps predict disease progression and severity
- Differential Diagnosis: Distinguishes from other muscle disorders
- Research Contribution: Advances understanding of rare neuromuscular conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates the presence of pathogenic ATP2A1 mutations confirming Brody myopathy diagnosis
- Negative Result: Suggests absence of known ATP2A1 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of a mutated gene
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ATP2A1 Gene Brody Myopathy NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
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 facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Answers
If you or a loved one are experiencing symptoms suggestive of Brody myopathy or have a family history of neuromuscular disorders, don’t wait to get the answers you need. Our comprehensive ATP2A1 genetic testing provides the clarity required for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward understanding your genetic health.
Call or WhatsApp us at +1(267) 388-9828 to book your ATP2A1 Gene Brody Myopathy NGS Genetic DNA Test today and take control of your neurological health.
