GBE1 Gene Andersen Disease NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The GBE1 Gene Andersen Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced screening utilizes next-generation sequencing technology to detect mutations in the GBE1 gene, which encodes the glycogen branching enzyme. Andersen disease, also known as glycogen storage disease type IV, is a rare inherited metabolic condition that affects the body’s ability to properly store and utilize glycogen. Early and accurate diagnosis through this test is crucial for implementing appropriate management strategies and improving patient outcomes.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets the GBE1 gene to identify pathogenic variants that cause glycogen branching enzyme deficiency. The test examines:
- Point mutations, deletions, and insertions in the GBE1 gene
- Single nucleotide polymorphisms associated with Andersen disease
- Copy number variations affecting gene function
- Novel genetic variants with potential clinical significance
The NGS technology employed provides 99% accuracy in detecting genetic abnormalities, ensuring reliable results for clinical decision-making.
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals presenting with:
- Unexplained progressive muscle weakness and hypotonia
- Hepatomegaly (enlarged liver) without clear cause
- Developmental delays in infants and children
- Failure to thrive and growth retardation
- Cardiomyopathy or heart muscle abnormalities
- Family history of glycogen storage diseases
- Unexplained liver cirrhosis in childhood
- Suspected metabolic disorders with unclear diagnosis
Significant Benefits of Genetic Testing
Undergoing the GBE1 Gene Andersen Disease test provides numerous advantages:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and provides definitive answers
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic profile
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Early Intervention: Allows for proactive management before severe complications develop
- Disease Monitoring: Establishes baseline for tracking disease progression
- Research Contribution: Helps advance understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic GBE1 gene mutations confirming Andersen disease diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the GBE1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | GBE1 Gene Andersen Disease 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) Technology |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions, please note the following requirements:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of family members affected by Andersen disease
- Discussion of potential implications and limitations of testing
- Informed consent process for genetic testing
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 network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our GBE1 Gene Andersen Disease NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our limited-time discount pricing at only $500 USD (regularly $700 USD), now is the perfect opportunity to invest in your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are available to answer all your questions and guide you through the testing process.
Early detection through comprehensive genetic screening can make a significant difference in managing metabolic disorders effectively. Trust our advanced NGS technology and experienced genetics team to provide you with accurate, reliable results and personalized guidance for your health journey.
