GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic conditions. This advanced test utilizes next-generation sequencing technology to analyze the GBE1 gene, which encodes the glycogen branching enzyme essential for proper glycogen metabolism. When this enzyme is deficient due to genetic mutations, it leads to Glycogen Storage Disease Type 4 (GSD IV), also known as Andersen disease—a rare but serious inherited metabolic disorder affecting multiple organ systems.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the GBE1 gene located on chromosome 3, examining it for pathogenic variants that disrupt normal glycogen branching enzyme function. The test detects:
- Point mutations, deletions, and insertions in the GBE1 gene
- Single nucleotide polymorphisms affecting enzyme activity
- Genetic variants associated with different clinical presentations of GSD IV
- Inheritance patterns through family genetic analysis
The test provides crucial information about the specific genetic alterations responsible for abnormal glycogen accumulation in liver, muscle, heart, and nervous system tissues.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of Glycogen Storage Disease Type 4 or those with concerning family history:
- Infants and children with progressive liver cirrhosis or hepatomegaly
- Patients experiencing muscle weakness, hypotonia, or myopathy
- Individuals with developmental delays or neurological symptoms
- Those with unexplained cardiomyopathy or cardiac involvement
- Family members of individuals diagnosed with GSD IV
- Couples with family history of metabolic disorders considering pregnancy
- Patients with abnormal liver function tests of unknown origin
Clinical Benefits of Genetic Testing
Undergoing the GBE1 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out GSD IV with high precision
- Early Intervention: Enables proactive management before severe complications develop
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Peace of Mind: Reduces diagnostic uncertainty for patients and families
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies pathogenic variants in the GBE1 gene, confirming diagnosis of Glycogen Storage Disease Type 4. Our genetic counselors will explain the implications and next steps.
- Negative Result: No disease-causing variants detected in the GBE1 gene, making GSD IV unlikely. Alternative diagnoses may need consideration.
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact. Additional family testing may be recommended.
- Carrier Status: Identifies individuals with one copy of a mutated gene who may pass the condition to offspring.
All results include detailed interpretation by our board-certified genetic specialists and recommendations for follow-up care.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) Technology |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic metabolic conditions affect your health decisions. Our GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test provides the clarity you need for informed medical management and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic diagnostics without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
