SGCB Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2E NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy
The SGCB Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2E NGS Genetic DNA Test represents a significant advancement in neuromuscular disorder diagnostics. This specialized genetic test utilizes next-generation sequencing technology to analyze the SGCB gene, which encodes the beta-sarcoglycan protein essential for maintaining muscle cell membrane integrity. When mutations occur in this gene, they disrupt the dystrophin-glycoprotein complex, leading to progressive muscle degeneration and weakness characteristic of limb-girdle muscular dystrophy type 2E.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the SGCB gene to identify pathogenic variants including:
- Point mutations affecting protein function
- Small insertions and deletions disrupting gene structure
- Copy number variations affecting gene dosage
- Splice site mutations altering protein production
- Frameshift mutations leading to premature protein termination
The test provides complete coverage of the SGCB gene coding regions, exon-intron boundaries, and known regulatory elements to ensure comprehensive mutation detection. Our advanced NGS platform delivers exceptional accuracy with >99% sensitivity for variant detection, making it the gold standard for SGCB-related muscular dystrophy diagnosis.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Progressive muscle weakness affecting hip and shoulder girdle muscles
>Difficulty rising from chairs, climbing stairs, or lifting objects overhead
>Elevated serum creatine kinase (CK) levels without clear explanation
>Family history of muscular dystrophy or unexplained muscle weakness
>Childhood or adolescent-onset progressive muscle wasting
>Calf muscle hypertrophy or pseudohypertrophy
>Cardiac involvement including cardiomyopathy or arrhythmias
>Respiratory muscle weakness requiring ventilatory support
Additionally, this test is valuable for asymptomatic individuals with a family history of SGCB mutations who seek carrier status information for family planning purposes.
Benefits of SGCB Genetic Testing
Clinical and Personal Advantages
Undergoing SGCB genetic testing provides numerous benefits for patients and families:
- Accurate Diagnosis: Confirms or rules out limb-girdle muscular dystrophy type 2E, enabling targeted treatment approaches
- Prognostic Information: Helps predict disease progression and anticipate potential complications
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Treatment Guidance: Informs management strategies including physical therapy, cardiac monitoring, and respiratory care
- Clinical Trial Eligibility: May qualify patients for emerging therapies and research studies
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for future planning
Understanding Your Test Results
Interpretation and Next Steps
Your genetic test results will fall into one of several categories, each with specific implications:
Positive Result
Identification of two pathogenic SGCB mutations confirms the diagnosis of limb-girdle muscular dystrophy type 2E. Our genetic counselors will provide comprehensive guidance on disease management, surveillance recommendations, and family testing options.
Carrier Status
Detection of a single pathogenic mutation indicates carrier status. While carriers typically don’t develop the disease, they have a 50% chance of passing the mutation to each child. Genetic counseling is recommended for family planning discussions.
Negative Result
No pathogenic SGCB mutations detected significantly reduces the likelihood of limb-girdle muscular dystrophy type 2E, though other genetic or acquired muscle disorders may require consideration.
Variant of Uncertain Significance
Some genetic changes may have unclear clinical implications. Our team provides ongoing monitoring and may recommend additional family studies to clarify variant significance.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Test Name | SGCB Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2E NGS Genetic DNA Test |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art facilities ensure consistent, high-quality testing standards regardless of location.
Take Control of Your Genetic Health
Don’t let uncertainty about muscular weakness or family history of neuromuscular disorders delay your path to clarity. Our SGCB genetic test provides the definitive answers you need for informed healthcare decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class diagnostic expertise.
Call us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic specialists. Early diagnosis leads to better management outcomes and improved quality of life for individuals and families affected by muscular dystrophy.
