GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test
Introduction
The GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test is a specialized genetic test that plays a vital role in diagnosing Glycogen Storage Disease Type 4 (GSD IV), a rare metabolic disorder. This condition arises from mutations in the GBE1 gene, which is crucial for the proper metabolism of glycogen. By utilizing Next-Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the GBE1 gene, allowing for accurate diagnosis and management of the disease.
What the Test Measures
This test detects mutations in the GBE1 gene, which can lead to Glycogen Storage Disease Type 4. It identifies specific genetic changes that may affect the enzyme responsible for breaking down glycogen, thus assessing the risk of developing this metabolic disorder.
Who Should Consider This Test
Individuals who may benefit from the GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test include:
- People with a family history of glycogen storage diseases.
- Individuals exhibiting symptoms such as muscle weakness, liver enlargement, or heart problems.
- Patients with unexplained metabolic disorders.
Benefits of Taking the Test
The benefits of undergoing this genetic test include:
- Early diagnosis of Glycogen Storage Disease Type 4.
- Informed decision-making regarding treatment options.
- Family planning and genetic counseling for at-risk individuals.
- Access to specialized care and support.
Understanding Your Results
Results from the GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test will indicate whether any mutations are present in the GBE1 gene. A genetic counseling session is recommended to help interpret these results and understand their implications for your health and family.
Test Details
| Test Name | Price (NGN) |
|---|---|
| GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test | Discount Price: 400,000 NGN |
| Regular Price: 560,000 NGN |
Turnaround Time and Sample Type
The typical turnaround time for this test is between 3 to 4 weeks. The sample required can be blood, extracted DNA, or one drop of blood on an FTA card.
Pre-Test Instructions
Before taking the GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test, patients should provide a clinical history and may benefit from a genetic counseling session to draw a pedigree chart of family members affected by Glycogen Storage Disease Type 4.
Book Your Test Today
Don’t wait to understand your genetic health. Book the GBE1 Gene Glycogen Storage Disease Type 4 NGS Genetic DNA Test today by calling or sending a WhatsApp message to +2348077798758.
