AGL Gene Glycogen Storage Disease Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The AGL Gene Glycogen Storage Disease Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with glycogen storage disease type 3, also known as Cori disease or Forbes disease. This metabolic disorder affects the body’s ability to properly break down glycogen, leading to significant health complications when left undiagnosed.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the AGL gene, which encodes the glycogen debranching enzyme. The test specifically detects:
- Point mutations in the AGL gene
- Small insertions and deletions
- Copy number variations
- Pathogenic variants affecting enzyme function
The AGL gene plays a critical role in glycogen metabolism by breaking down glycogen’s branched structure. Mutations in this gene lead to deficient debranching enzyme activity, causing abnormal glycogen accumulation in various tissues.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of glycogen storage disease type 3, including:
- Hepatomegaly (enlarged liver) in infancy or childhood
- Hypoglycemia (low blood sugar) episodes
- Growth retardation and delayed motor development
- Muscle weakness and progressive myopathy
- Elevated liver enzymes and triglycerides
- Cardiomyopathy in some cases
- Family history of metabolic disorders
At-Risk Populations
The test is particularly valuable for:
- Children with unexplained hepatomegaly
- Individuals with suspected metabolic disorders
- Patients with family history of glycogen storage diseases
- Couples planning pregnancy with known family history
- Individuals with progressive muscle weakness of unknown origin
Benefits of AGL Gene Testing
Comprehensive Diagnostic Advantages
Undergoing the AGL Gene Glycogen Storage Disease Type 3 NGS Genetic DNA Test provides numerous benefits:
- Accurate Diagnosis: Provides definitive genetic confirmation of GSD type 3
- Personalized Treatment: Enables targeted management strategies
- Family Planning: Offers crucial information for genetic counseling
- Early Intervention: Facilitates timely treatment to prevent complications
- Disease Monitoring: Helps track disease progression and treatment response
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Interpreting Genetic Findings
Your test results will provide detailed information about your AGL gene status:
- Positive Result: Identifies pathogenic mutations confirming GSD type 3 diagnosis
- Negative Result: No disease-causing mutations detected in the AGL gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact
- Carrier Status: Identifies individuals with one mutated copy of the gene
All results are accompanied by comprehensive interpretation and recommendations from our genetic specialists. Positive results typically lead to personalized management plans including dietary modifications, regular monitoring, and specialized care coordination.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | AGL Gene Glycogen Storage Disease Type 3 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Discussion of potential outcomes and implications
- Informed consent process
Nationwide Testing Availability
We have testing facilities conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
Take Control of Your Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. The AGL Gene Glycogen Storage Disease Type 3 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and help interpret 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.
Early detection through comprehensive genetic testing can significantly improve outcomes for individuals with glycogen storage disease type 3. Contact us now to learn more about this advanced diagnostic option and how it can benefit you or your family members.
