POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy
The POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the POMT1 gene, which plays a critical role in muscle protein glycosylation and maintenance. Limb-girdle muscular dystrophy type 2N is a rare autosomal recessive condition characterized by progressive muscle weakness affecting the hip and shoulder girdles. Early and accurate diagnosis through this NGS-based test enables timely intervention and personalized management strategies for affected individuals and their families.
What This Test Detects and Measures
Our state-of-the-art NGS genetic testing platform comprehensively analyzes the POMT1 gene to identify:
- Pathogenic variants and mutations in the POMT1 gene
- Single nucleotide polymorphisms (SNPs) associated with limb-girdle muscular dystrophy
- Insertions, deletions, and copy number variations
- Autosomal recessive inheritance patterns
- Disease-causing mutations affecting protein O-mannosyltransferase 1 function
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals experiencing:
- Progressive muscle weakness in hips and shoulders
- Difficulty climbing stairs or rising from chairs
- Waddling gait or frequent falls
- Family history of muscular dystrophy or unexplained muscle weakness
- Elevated creatine kinase levels without clear cause
- Delayed motor milestones in childhood
- Muscle cramps or stiffness without other explanations
Key Benefits of POMT1 Genetic Testing
Choosing our comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of POMT1 gene mutations eliminates diagnostic uncertainty
- Family Planning Guidance: Enables informed reproductive decisions for carriers and affected individuals
- Early Intervention: Facilitates timely management and treatment strategies
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Research Contribution: Helps advance understanding of muscular dystrophy genetics
Understanding Your Test Results
Interpretation Guidance
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic POMT1 mutations confirming limb-girdle muscular dystrophy type 2N diagnosis
- Negative Result: Suggests absence of detectable POMT1 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
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 counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about muscular dystrophy symptoms affect your quality of life. Our POMT1 genetic test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you can access cutting-edge diagnostic technology without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward genetic clarity and personalized healthcare management.
