POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2K NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy
The POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2K NGS Genetic DNA Test represents a breakthrough in neuromuscular disorder diagnostics. This advanced genetic test specifically targets mutations in the POMT1 gene, which plays a critical role in muscle protein glycosylation and maintenance. Limb-girdle muscular dystrophy type 2K is a rare autosomal recessive condition characterized by progressive weakness and wasting of muscles around the shoulders and hips. Early and accurate diagnosis through this NGS-based test enables timely intervention and personalized treatment approaches.
What This Test Detects
This sophisticated genetic analysis utilizes next-generation sequencing technology to comprehensively examine the entire POMT1 gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the POMT1 gene
- Autosomal recessive inheritance patterns
- Pathogenic variants associated with limb-girdle muscular dystrophy type 2K
- Genetic markers for disease progression and severity
- Carrier status for family planning purposes
Who Should Consider This Test
This genetic test is recommended for individuals experiencing specific neuromuscular symptoms or those with relevant family history:
- Progressive muscle weakness in shoulder and hip regions
- Difficulty rising from chairs or climbing stairs
- Frequent falls or walking abnormalities
- Family history of muscular dystrophy or neuromuscular disorders
- Unexplained elevated creatine kinase levels
- Children or adults with delayed motor milestones
- Individuals planning pregnancy with family history of LGMD
Benefits of POMT1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out limb-girdle muscular dystrophy type 2K with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management strategies before significant muscle deterioration
- Clinical Trial Eligibility: Opens access to specialized treatments and research opportunities
- Psychological Relief: Reduces diagnostic uncertainty and provides clear answers
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic POMT1 mutations confirming LGMD type 2K diagnosis
- Negative Result: Suggests absence of detectable POMT1 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Reveals if you carry one copy of a mutated gene without showing symptoms
All results include comprehensive genetic counseling to ensure complete understanding and appropriate 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, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Neuromuscular Health
Don’t let uncertainty about muscle weakness or family history of muscular dystrophy delay your diagnosis. Our POMT1 Gene Limb-Girdle Muscular Dystrophy Type 2K NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class diagnostic services without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and planning your future with confidence.
