PGM1 Gene Glycogen Storage Disease Type 14 NGS Genetic DNA Test
Comprehensive Introduction to PGM1 Genetic Testing
The PGM1 Gene Glycogen Storage Disease Type 14 NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering unparalleled accuracy in detecting mutations associated with glycogen storage disease type 14. This sophisticated genetic analysis targets the phosphoglucomutase 1 (PGM1) gene, which plays a critical role in glycogen metabolism and energy production within human cells.
Glycogen storage disease type 14 is a rare inherited metabolic disorder characterized by impaired glycogen synthesis and breakdown, leading to significant health complications. Early detection through this advanced NGS-based test enables proactive management and personalized treatment approaches, potentially preventing severe complications and improving long-term health outcomes.
What the Test Measures and Detects
This comprehensive genetic test specifically analyzes the PGM1 gene using Next-Generation Sequencing technology to identify:
- Pathogenic variants and mutations in the PGM1 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
The test provides complete coverage of the PGM1 gene coding regions, splice sites, and regulatory elements, ensuring comprehensive mutation detection with 99.9% accuracy.
Who Should Consider This Test
Clinical Indications and Symptoms
Individuals presenting with the following symptoms should consider PGM1 genetic testing:
- Unexplained muscle weakness and fatigue
- Exercise intolerance and reduced physical endurance
- Recurrent hypoglycemia episodes
- Developmental delays in children
- Failure to thrive in infancy
- Elevated liver enzymes without clear cause
- Family history of metabolic disorders
- Unexplained cardiomyopathy or cardiac issues
At-Risk Populations
- Children with suspected metabolic disorders
- Individuals with family history of glycogen storage diseases
- Patients with unexplained metabolic abnormalities
- Couples planning pregnancy with family history of metabolic conditions
Significant Benefits of PGM1 Genetic Testing
Undergoing the PGM1 Gene Glycogen Storage Disease Type 14 test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention before severe complications develop
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic mutations
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Peace of Mind: Offers definitive answers for families dealing with unexplained symptoms
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Interpretation Guidelines
Your PGM1 genetic test results will be carefully interpreted by our certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic mutations confirming glycogen storage disease type 14 diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the PGM1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals carrying one copy of mutated gene without disease symptoms
Post-Test Recommendations
Following your test results, our genetic counseling team will provide:
- Comprehensive explanation of findings
- Personalized management recommendations
- Family testing guidance
- Referral to metabolic specialists when needed
- Long-term monitoring strategies
Test Pricing and Details
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: General Physician
- Department: Genetics
- Method: NGS Technology
- Disease Type: Metabolic Disorders
Pre-Test Instructions
Before your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
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, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Action Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. The PGM1 Gene Glycogen Storage Disease Type 14 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. Our experienced team is ready to guide you through the testing process and help you understand your results.
Call us today at +1(267) 388-9828 to schedule your test or speak with our genetic counseling specialists. Take the first step toward definitive answers and personalized care for metabolic health concerns.
Book your PGM1 genetic test now and benefit from our limited-time discount pricing of only $500. Early detection can make a significant difference in managing metabolic disorders effectively.
