POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C3 NGS Genetic DNA Test
Understanding POMGNT1 Gene Muscular Dystrophy Testing
The POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying a specific form of congenital muscular dystrophy. This comprehensive genetic analysis utilizes next-generation sequencing technology to detect mutations in the POMGNT1 gene, which plays a critical role in muscle function and development.
Muscular dystrophy-dystroglycanopathy type C3 is a rare autosomal recessive disorder characterized by progressive muscle weakness and degeneration. The POMGNT1 gene encodes an enzyme essential for proper glycosylation of alpha-dystroglycan, a key protein in maintaining muscle cell membrane integrity. When this gene malfunctions, it disrupts the muscle’s structural framework, leading to the characteristic symptoms of limb-girdle muscular dystrophy.
What This Test Measures and Detects
Our advanced NGS genetic DNA test specifically targets:
- Complete sequencing of the POMGNT1 gene to identify pathogenic variants
- Detection of point mutations, insertions, deletions, and splice site variants
- Assessment of gene copy number variations that may contribute to disease
- Comprehensive analysis of all coding regions and flanking intronic sequences
The test provides high-resolution genetic data that helps clinicians confirm diagnoses, predict disease progression, and develop personalized management strategies. By identifying the specific genetic mutation responsible for the condition, healthcare providers can offer more targeted interventions and accurate prognostic information.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Progressive muscle weakness affecting the hips, shoulders, and pelvic girdle
- Difficulty rising from seated positions or climbing stairs
- Abnormal gait patterns or frequent falls
- Elevated serum creatine kinase levels
- Family history of muscular dystrophy or unexplained muscle weakness
- Developmental delays in motor milestones during childhood
- Muscle biopsy findings suggestive of dystroglycanopathy
At-Risk Populations
- Children with suspected congenital muscular dystrophy
- Adults with progressive limb-girdle weakness of unknown origin
- Individuals with family members diagnosed with POMGNT1-related disorders
- Couples planning pregnancy with known family history of muscular dystrophy
Benefits of POMGNT1 Genetic Testing
Undergoing this comprehensive genetic analysis offers numerous advantages:
- Accurate Diagnosis: Provides definitive confirmation of POMGNT1-related muscular dystrophy, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables healthcare providers to develop targeted management strategies based on specific genetic findings
- Family Planning Guidance: Offers crucial information for reproductive decision-making and genetic counseling
- Early Intervention: Facilitates timely implementation of physical therapy and supportive care measures
- Prognostic Information: Helps predict disease progression and anticipate future healthcare needs
- Research Contribution: Contributes to ongoing scientific understanding of muscular dystrophy disorders
Understanding Your Test Results
Positive Results
A positive result indicates the presence of pathogenic mutations in the POMGNT1 gene. This confirmation enables:
- Definitive diagnosis of muscular dystrophy-dystroglycanopathy type C3
- Implementation of appropriate medical management strategies
- Genetic counseling for family members regarding inheritance patterns
- Connection with specialized neuromuscular care teams
Negative Results
A negative result suggests that POMGNT1 mutations are not responsible for the clinical symptoms. This information helps:
- Direct further diagnostic evaluation toward other potential causes
- Rule out POMGNT1-related disorders in the differential diagnosis
- Guide investigation of alternative genetic or acquired conditions
Variant of Uncertain Significance (VUS)
In some cases, the test may identify genetic changes with unclear clinical implications. Our genetic counseling team provides:
- Detailed explanation of variant significance
- Recommendations for additional family member testing
- Guidance on ongoing monitoring and future retesting options
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C3 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 / Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent process completion
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection facilities ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about muscular dystrophy symptoms delay your path to accurate diagnosis and proper management. Our specialized genetic testing team is ready to assist you in understanding your genetic profile and making informed healthcare decisions.
Call us now at +1(267) 388-9828 to schedule your POMGNT1 genetic test or to speak with our genetic counseling specialists. Early detection through comprehensive genetic analysis can make a significant difference in managing muscular dystrophy and planning for the future.
Our commitment to excellence in genetic diagnostics ensures that you receive the highest quality testing, accurate results, and comprehensive support throughout your genetic health journey. Trust GGC DNA for reliable, advanced genetic testing solutions.
