PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the PGAM2 gene, which plays a crucial role in glycogen metabolism and energy production within muscle tissues.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the PGAM2 gene, which encodes phosphoglycerate mutase, an essential enzyme in the glycolytic pathway. The test detects:
- Point mutations and single nucleotide variants in the PGAM2 gene
- Insertions and deletions affecting gene function
- Copy number variations impacting enzyme production
- Pathogenic variants associated with glycogen storage disease type 10
- Genetic markers indicating impaired glycogen breakdown
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals experiencing:
- Exercise intolerance and muscle fatigue during physical activity
- Recurrent muscle cramps and stiffness following exercise
- Unexplained muscle weakness or pain
- Family history of metabolic disorders or glycogen storage diseases
- Elevated creatine kinase levels without clear explanation
- Suspected metabolic myopathies affecting muscle function
- Children showing developmental delays in motor skills
Significant Benefits of PGAM2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt identification of glycogen storage disease type 10 before severe complications develop
- Personalized Treatment: Guides development of customized management strategies including exercise modifications and dietary adjustments
- Family Planning: Provides crucial information for genetic counseling and family risk assessment
- Symptom Management: Helps implement targeted interventions to reduce exercise-induced symptoms
- Proactive Health Monitoring: Facilitates regular monitoring for potential complications
- Peace of Mind: Offers clarity and understanding of underlying metabolic conditions
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of PGAM2 gene mutations associated with glycogen storage disease type 10, requiring comprehensive management planning
- Negative Result: Suggests no detectable mutations in the PGAM2 gene, though other metabolic conditions may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring
- Carrier Status: Determines if you carry a single copy of the mutated gene, important for family planning decisions
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, reliable results regardless of your location.
Take Control of Your Metabolic Health Today
Don’t let unexplained muscle symptoms or family history of metabolic disorders remain a mystery. Our PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test provides the answers you need for informed health decisions. With rapid turnaround times of 3-4 weeks and comprehensive genetic counseling support, you’ll receive the clarity and guidance necessary for optimal metabolic health management.
Ready to understand your genetic metabolic profile? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online to schedule your PGAM2 genetic testing. Take the first step toward personalized metabolic health management and family risk assessment.
