POMK Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 12C NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Muscle Disorders
The POMK Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 12C NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited muscle diseases. This advanced genetic test specifically targets mutations in the POMK (Protein O-Mannose Kinase) gene, which plays a crucial role in maintaining muscle cell integrity and function. When mutations occur in this gene, they disrupt the normal glycosylation process essential for muscle protein stability, leading to progressive muscle degeneration characteristic of limb-girdle muscular dystrophy type 12C.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the entire POMK gene to identify:
- Pathogenic variants and mutations in the POMK gene
- Autosomal recessive inheritance patterns
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations (CNVs) affecting gene function
- Novel mutations previously undetected by conventional methods
The test’s high sensitivity and specificity ensure accurate detection of even rare mutations, providing definitive diagnostic information for patients and their families.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in hips, shoulders, and limbs
- Difficulty climbing stairs, rising from chairs, or lifting objects
- Family history of muscular dystrophy or unexplained muscle disorders
- Elevated creatine kinase (CK) levels without clear explanation
- Muscle biopsy findings suggestive of muscular dystrophy
- Children or adults with delayed motor milestones or regression
- Individuals from families with consanguineous relationships
Significant Benefits of POMK Genetic Testing
Undergoing this comprehensive genetic analysis provides multiple advantages:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and provides definitive answers
- Personalized Treatment: Enables targeted therapeutic approaches and management strategies
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Information: Helps predict disease progression and anticipate future needs
- Clinical Trial Eligibility: Opens doors to specialized treatments and research opportunities
- Genetic Counseling: Supports informed family risk assessment and management
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Indicates pathogenic mutations in both POMK gene copies, confirming diagnosis of LGMD type 12C
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
- Negative Result: Suggests absence of detectable POMK mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
Our genetic specialists provide detailed explanations and guidance for all result scenarios, ensuring you understand the implications for your health and family.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| POMK Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 12C NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about muscle weakness or family history of muscular dystrophy delay your path to accurate diagnosis. Our specialized genetic testing provides the answers you need for informed healthcare decisions. With results typically available within 3-4 weeks and comprehensive genetic counseling included, you’ll receive the support and information necessary to navigate your health journey with confidence.
Call us now at +1(267) 388-9828 to schedule your genetic test consultation or book your appointment online. Our genetic specialists are ready to answer your questions and guide you through the testing process.
