POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 NGS Genetic DNA Test
Understanding POMGNT1 Gene-Related Muscular Dystrophy
The POMGNT1 gene plays a critical role in the proper functioning of muscle cells and brain development. Mutations in this gene lead to a specific form of congenital muscular dystrophy known as dystroglycanopathy type B3, which is characterized by muscle weakness present at birth and associated intellectual disability. This condition represents a rare but significant neurological disorder that requires precise genetic diagnosis for appropriate management and treatment planning.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic DNA test specifically targets and analyzes the POMGNT1 gene to identify pathogenic variants responsible for:
- Point mutations, deletions, and insertions in the POMGNT1 gene
- Genetic abnormalities affecting alpha-dystroglycan glycosylation
- Variants associated with congenital muscular dystrophy with mental retardation
- Specific mutations linked to Walker-Warburg syndrome and muscle-eye-brain disease spectrum
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Infants and children with congenital muscle weakness and hypotonia
- Patients with developmental delays and intellectual disability
- Individuals with abnormal brain MRI findings including cobblestone lissencephaly
- Patients with eye abnormalities such as retinal dysplasia or congenital cataracts
- Family history of muscular dystrophy or similar neurological conditions
- Unexplained elevated creatine kinase levels
Benefits of POMGNT1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out POMGNT1-related muscular dystrophy
- Personalized Treatment: Guides targeted therapeutic interventions and management strategies
- 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 and rehabilitation
Understanding Your Test Results
Our comprehensive genetic report provides detailed analysis and interpretation:
- Positive Result: Indicates the presence of pathogenic POMGNT1 mutations, confirming diagnosis
- Negative Result: Suggests absence of detectable mutations in the POMGNT1 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed genetic counseling to ensure proper understanding and next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or 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, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our specialized neurological genetics team is ready to provide comprehensive testing and support. Contact us today to schedule your POMGNT1 genetic test and begin your journey toward accurate diagnosis and personalized care.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or request more information about this essential genetic test.
