PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Muscle Disorders
The PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying McArdle disease, a rare inherited metabolic disorder. This sophisticated genetic analysis utilizes next-generation sequencing technology to detect mutations in the PYGM gene, which encodes the muscle-specific glycogen phosphorylase enzyme essential for energy production during physical activity.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the PYGM gene located on chromosome 11, analyzing its complete coding regions and critical regulatory elements. The test identifies:
- Pathogenic variants affecting glycogen breakdown
- Missense, nonsense, and frameshift mutations
- Deletions and insertions impacting enzyme function
- Compound heterozygous and homozygous mutations
- Novel genetic variants with clinical significance
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with characteristic symptoms of glycogen storage disease type 5, including:
- Exercise intolerance with muscle pain and stiffness
- Muscle cramps during physical activity
- Myoglobinuria (dark urine after exercise)
- Second wind phenomenon – improvement with continued activity
- Muscle weakness and fatigue
- Elevated creatine kinase levels
- Family history of metabolic muscle disorders
Significant Benefits of Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing the PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test provides numerous clinical benefits:
- Accurate Diagnosis: Confirms or rules out McArdle disease with high precision
- Personalized Treatment: Enables tailored exercise and dietary recommendations
- Genetic Counseling: Provides essential information for family planning
- Early Intervention: Facilitates proactive management to prevent complications
- Differential Diagnosis: Helps distinguish from other metabolic myopathies
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Comprehensive Result Interpretation
Our genetic specialists provide detailed analysis of your test results, including:
- Positive Result: Identification of pathogenic PYGM gene mutations confirms McArdle disease diagnosis
- Negative Result: No detected mutations suggest alternative diagnoses
- Variant of Uncertain Significance: Requires additional clinical correlation
- Carrier Status: Identifies individuals with single mutation copies
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Information and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test | – |
| Discount Price | Limited Time Special Offer | $500 |
| Regular Price | Standard Testing Cost | $700 |
| Turnaround Time | Comprehensive Analysis Period | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card | – |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient 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 cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let unexplained muscle symptoms affect your quality of life. The PYGM Gene Glycogen Storage Disease Type 5 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized care.
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history documentation
- Genetic counseling session scheduled
- Family pedigree chart prepared
- Relevant medical records available
Our genetic counselors will help you prepare all necessary documentation and answer any questions about the testing process.
