POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Limb-Girdle Muscular Dystrophy
The POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with limb-girdle muscular dystrophy type C2. This specialized neurological genetic test utilizes next-generation sequencing technology to provide accurate and comprehensive analysis of the POMT2 gene, which plays a critical role in muscle function and development.
What This Test Measures and Detects
This advanced genetic test specifically targets the POMT2 gene, which encodes the protein O-mannosyltransferase 2 enzyme. This enzyme is essential for proper glycosylation of alpha-dystroglycan, a key component of the dystrophin-glycoprotein complex that stabilizes muscle cell membranes. The test detects:
- Pathogenic mutations in the POMT2 gene
- Single nucleotide variants and small insertions/deletions
- Copy number variations affecting the POMT2 gene
- Genetic variants associated with dystroglycanopathy spectrum disorders
Who Should Consider This Test
This genetic test is particularly important for individuals experiencing symptoms suggestive of limb-girdle muscular dystrophy, including:
- Progressive muscle weakness in the hips, shoulders, and pelvic girdle
- Difficulty rising from chairs or climbing stairs
- Frequent falls and balance problems
- Muscle wasting and reduced muscle mass
- Elevated creatine kinase levels in blood tests
- Family history of muscular dystrophy or similar neurological conditions
- Children or adults with delayed motor milestones
Clinical Benefits of Genetic Testing
Undergoing the POMT2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out limb-girdle muscular dystrophy type C2
- Personalized Treatment: Guides appropriate management and therapeutic interventions
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Enables timely implementation of supportive care measures
- Research Participation: May qualify patients for clinical trials and emerging treatments
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists and neurologists:
- Positive Result: Indicates the presence of pathogenic POMT2 mutations, confirming the diagnosis of limb-girdle muscular dystrophy type C2
- Negative Result: Suggests that POMT2 mutations are not the cause of symptoms, though other genetic or non-genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene, which may be important for family planning
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 undergoing testing, patients should provide:
- Complete clinical history detailing symptoms and progression
- Genetic counseling session to create a detailed family pedigree chart
- Information about affected family members with similar symptoms
- Previous diagnostic test results and medical records
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Neurological Health Today
Don’t let uncertainty about your muscle weakness symptoms delay proper diagnosis and treatment. Our advanced POMT2 genetic testing provides the clarity needed to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class neurological genetic testing without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your condition.
Our team of genetic specialists and neurologists is ready to provide the expert guidance and support you need throughout the testing process. Early diagnosis through genetic testing can significantly impact treatment outcomes and quality of life for individuals with limb-girdle muscular dystrophy.
