PLEC Gene Muscular Dystrophy Limb-Girdle Type 2Q NGS Genetic DNA Test
Comprehensive Genetic Testing for Limb-Girdle Muscular Dystrophy
The PLEC Gene Muscular Dystrophy Limb-Girdle Type 2Q NGS Genetic DNA Test represents a breakthrough in neuromuscular disorder diagnostics. This advanced genetic test specifically targets mutations in the PLEC gene, which encodes plectin—a critical protein that stabilizes muscle fibers and maintains structural integrity. When plectin function is compromised due to genetic mutations, it leads to progressive muscle degeneration characteristic of limb-girdle muscular dystrophy type 2Q.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the PLEC gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the PLEC gene
- Pathogenic variants associated with limb-girdle muscular dystrophy
- Novel mutations that may contribute to disease progression
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in shoulders and hips
- Difficulty rising from chairs or climbing stairs
- Frequent falls or balance problems
- Muscle wasting without clear explanation
- Family history of muscular dystrophy or neuromuscular disorders
- Unexplained elevated creatine kinase levels
- Children with delayed motor milestones
Clinical Benefits of PLEC Gene Testing
Undergoing PLEC gene testing provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out limb-girdle muscular dystrophy type 2Q
- Personalized Treatment: Enables targeted therapeutic approaches
- Genetic Counseling: Provides information for family planning decisions
- Prognostic Information: Helps predict disease progression and severity
- Early Intervention: Allows for timely management strategies
- Research Contribution: Advances understanding of rare neuromuscular conditions
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of pathogenic PLEC gene mutations associated with limb-girdle muscular dystrophy type 2Q. This confirms the diagnosis and enables appropriate medical management.
- Negative Result: Suggests no detectable PLEC gene mutations were found, though other genetic or non-genetic causes should still be considered.
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring further evaluation and monitoring.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| PLEC Gene Muscular Dystrophy Limb-Girdle Type 2Q NGS Genetic DNA Test – Discount Price | $500 |
| PLEC Gene Muscular Dystrophy Limb-Girdle Type 2Q NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
- Disease Category: Neurological Disorders
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their meanings
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including 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 throughout the testing process.
Take Control of Your Health Today
Don’t let uncertainty about muscle weakness or family history of neuromuscular disorders delay your diagnosis. Our PLEC Gene Muscular Dystrophy Limb-Girdle Type 2Q NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you can take the first step toward understanding your condition and planning your treatment journey.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. Take advantage of our limited-time discount and get the answers you deserve.
