CAV3 Gene Myopathy Distal Tateyama Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The CAV3 Gene Myopathy Distal Tateyama Type NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the CAV3 (caveolin-3) gene, which plays a critical role in muscle cell membrane structure and function. Distal Tateyama type myopathy is a rare inherited neuromuscular disorder characterized by progressive weakness in the distal muscles of the hands and feet. Early and accurate diagnosis through this NGS-based test enables proper management and treatment planning for affected individuals.
What This Test Measures and Detects
Our comprehensive NGS genetic DNA test analyzes the entire CAV3 gene sequence to identify pathogenic variants associated with distal Tateyama type myopathy. The test specifically detects:
- Point mutations in the CAV3 gene coding regions
- Small insertions and deletions affecting gene function
- Pathogenic variants known to cause muscle membrane abnormalities
- Novel mutations that may contribute to disease development
- Genetic markers associated with disease progression and severity
Who Should Consider This Test
This genetic test is recommended for individuals experiencing symptoms suggestive of distal myopathy or those with a family history of neuromuscular disorders. Key indications include:
- Progressive weakness in hands and feet muscles
- Difficulty with fine motor skills and grip strength
- Family history of distal myopathy or muscle disorders
- Unexplained muscle wasting in distal extremities
- Elevated creatine kinase levels without clear cause
- Suspected inherited neuromuscular conditions
- Patients with abnormal electromyography (EMG) results
Benefits of Taking the CAV3 Genetic Test
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out CAV3-related distal myopathy with high precision
- Treatment Guidance: Informs targeted treatment strategies and management approaches
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Enables timely implementation of supportive therapies
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your CAV3 gene analysis:
- Positive Result: Indicates the presence of pathogenic CAV3 mutations associated with distal Tateyama type myopathy. This confirms the diagnosis and enables targeted management strategies.
- Negative Result: Suggests that no disease-causing mutations were detected in the CAV3 gene. However, clinical correlation with symptoms remains important.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine clinical significance.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms.
All results are accompanied by detailed explanations and recommendations for next steps, including genetic counseling options.
Test Pricing and Information
| Test Feature | Details |
|---|---|
| Test Name | CAV3 Gene Myopathy Distal Tateyama Type 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 |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation for the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications and potential results
- Informed consent process for genetic testing
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities 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 testing for patients nationwide.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about your neuromuscular symptoms continue. The CAV3 Gene Myopathy Distal Tateyama Type NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists and neurologists are ready to support you through the testing process.
Book your test today by calling +1(267) 388-9828 or schedule your appointment online. Take control of your neurological health with advanced genetic testing from General Genetics Corporation.
