Glycogen Storage Disorder Gene Panel
Comprehensive Genetic Analysis for Glycogen Metabolism Disorders
Glycogen Storage Disorders (GSDs) represent a group of rare inherited metabolic conditions that disrupt the body’s ability to properly store and utilize glycogen. Our Glycogen Storage Disorder Gene Panel utilizes cutting-edge Next-Generation Sequencing (NGS) technology to provide comprehensive genetic analysis for individuals suspected of having these complex metabolic conditions.
What This Test Measures and Detects
This advanced genetic panel examines multiple genes responsible for glycogen metabolism, including:
- G6PC gene (GSD type I – von Gierke disease)
- AGL gene (GSD type III – Cori disease)
- PYGL gene (GSD type VI – Hers disease)
- PFKM gene (GSD type VII – Tarui disease)
- GAA gene (Pompe disease – GSD type II)
- Other critical genes involved in glycogen synthesis and breakdown pathways
The test identifies pathogenic variants, including point mutations, insertions, deletions, and copy number variations that may contribute to glycogen storage disorders.
Who Should Consider This Genetic Test
This comprehensive panel is recommended for individuals presenting with:
- Unexplained recurrent hypoglycemia, especially fasting hypoglycemia
- Hepatomegaly (enlarged liver) without clear cause
- Muscle weakness, cramps, or exercise intolerance
- Growth delays or failure to thrive in children
- Elevated liver enzymes or abnormal liver function tests
- Family history of glycogen storage disorders
- Unexplained metabolic acidosis or lactic acidosis
- Developmental delays with metabolic symptoms
Key Benefits of Genetic Testing for GSD
- Accurate Diagnosis: Provides definitive genetic confirmation of specific GSD types
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Identifies inheritance patterns and recurrence risks
- Early Intervention: Facilitates timely treatment to prevent complications
- Comprehensive Analysis: Single test covering multiple GSD-related genes
- Expert Interpretation: Results reviewed by certified genetic specialists
Understanding Your Test Results
Your genetic test report will include detailed information about:
- Pathogenic Variants: Identification of disease-causing mutations
- Variant Classification: Clear categorization of genetic findings
- Clinical Significance: Explanation of how results relate to symptoms
- Inheritance Pattern: Information about autosomal recessive or dominant inheritance
- Management Recommendations: Guidance for next steps and specialist referrals
All positive results are confirmed through secondary validation methods, and genetic counseling is recommended for comprehensive result interpretation.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | Glycogen Storage Disorder Gene Panel |
| Discount Price | $900 USD |
| Regular Price | $1200 USD |
| Turnaround Time | 4-6 weeks |
| Sample Type | Amniotic fluid / Chorionic villi / Peripheral blood |
| Test Components | Sterile container / Sterile Normal Saline Container / EDTA Vacutainer |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Instructions
The Glycogen Storage Disorder Gene Panel requires a doctor’s prescription for testing. Please note that prescriptions are not applicable for surgery and pregnancy cases or individuals planning to travel abroad. Our team will guide you through the sample collection process and ensure proper handling of your genetic material.
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving 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 facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic metabolic disorders affect your quality of life. Our comprehensive Glycogen Storage Disorder Gene Panel provides the clarity you need for informed healthcare decisions. With advanced NGS technology and expert genetic analysis, you’ll receive accurate, reliable results to guide your treatment journey.
Ready to schedule your genetic test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic specialists about whether this test is right for you.
Take the first step toward understanding your genetic health and accessing personalized care for glycogen metabolism disorders. Our team is here to support you through every step of the testing process.
