GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test
Introduction to the Test
The GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to analyze the GYS2 gene. This gene is critical in the regulation of glycogen synthesis, and mutations can lead to glycogen storage disease type 0, a rare metabolic disorder characterized by the inability to store glycogen effectively.
What the Test Measures
This test detects mutations in the GYS2 gene that may cause glycogen storage disease type 0. By identifying these mutations, healthcare providers can better understand the patient’s condition and recommend appropriate management strategies.
Who Should Consider This Test?
This test is particularly recommended for individuals who:
- Exhibit symptoms of glycogen storage diseases, such as muscle weakness, exercise intolerance, or hypoglycemia.
- Have a family history of metabolic disorders or glycogen storage disease type 0.
- Are undergoing genetic counseling for familial risk assessment.
Benefits of Taking the Test
- Early detection of glycogen storage disease type 0, allowing for timely intervention.
- Informed decision-making regarding lifestyle and treatment options.
- Peace of mind for patients and families through understanding genetic risks.
Understanding Your Results
Results from the GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test will provide insights into the presence of any mutations. A genetic counselor will assist in interpreting the results, discussing their implications, and outlining potential next steps for management and treatment.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book the Test
To book your GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test, please contact us at +2348077798758. Our dedicated team is ready to assist you with the booking process and any queries you may have.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with glycogen storage disease type 0.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
