SGCA Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2D NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy
The SGCA Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2D NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes next-generation sequencing (NGS) technology to identify specific mutations in the SGCA gene that cause limb-girdle muscular dystrophy type 2D. This autosomal recessive condition affects the skeletal muscles, leading to progressive weakness and mobility challenges. Early and accurate diagnosis through genetic testing is crucial for proper management and treatment planning.
What This Test Measures and Detects
This comprehensive genetic test specifically analyzes the SGCA (sarcoglycan alpha) gene located on chromosome 17q21. The test detects:
- Point mutations, deletions, and insertions in the SGCA gene
- Autosomal recessive inheritance patterns
- Pathogenic variants responsible for sarcoglycanopathy
- Carrier status for family members
- Specific genetic markers associated with disease severity
The NGS technology employed provides high-resolution analysis of the entire coding region and flanking intronic sequences, ensuring comprehensive mutation detection with exceptional accuracy.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Progressive muscle weakness in hips, shoulders, and limbs
- Difficulty rising from seated positions or climbing stairs
- Frequent falls and gait abnormalities
- Muscle wasting and reduced muscle mass
- Elevated creatine kinase (CK) levels
- Family history of muscular dystrophy or unexplained muscle weakness
- Children or adolescents with delayed motor milestones
- Individuals with suspected neuromuscular disorders
Benefits of SGCA Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out limb-girdle muscular dystrophy type 2D with high accuracy
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Genetic Counseling: Provides essential information for family planning and reproductive decisions
- Early Intervention: Facilitates timely management strategies to preserve muscle function
- Carrier Detection: Identifies asymptomatic carriers within families
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neuromuscular conditions
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic mutations in both copies of the SGCA gene, confirming the diagnosis of limb-girdle muscular dystrophy type 2D
- Carrier Status: Detection of a single pathogenic mutation indicates carrier status without disease manifestation
- Negative Result: No pathogenic mutations detected, effectively ruling out this specific form of muscular dystrophy
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SGCA Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2D 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 |
| Specialty | Neurology |
| Department | Genetics |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications with a healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Testing Availability
We have diagnostic centers conveniently located throughout the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, reliable testing services for patients across the country.
Take Control of Your Neurological Health
Don’t let uncertainty about muscular weakness or family history of neuromuscular disorders delay your diagnosis. Our SGCA genetic test provides the clarity needed for informed healthcare decisions and personalized treatment approaches. With advanced NGS technology and expert genetic analysis, you can trust our comprehensive testing services for accurate results and professional guidance.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule your appointment. Call us at +1(267) 388-9828 or book your genetic counseling session online. Take the first step toward definitive diagnosis and personalized care for limb-girdle muscular dystrophy type 2D.
