GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test
Introduction
The GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test is a specialized genetic test that plays a crucial role in diagnosing glycogen storage diseases, particularly type 0. Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to store and utilize glycogen, a form of stored glucose. This test utilizes Next-Generation Sequencing (NGS) technology to analyze the GYS2 gene, which is responsible for encoding an enzyme vital for glycogen synthesis. Understanding the genetic basis of this condition is essential for effective management and treatment.
What the Test Measures
This test specifically detects mutations in the GYS2 gene that may lead to glycogen storage disease type 0. By identifying these genetic variations, healthcare providers can better understand the underlying causes of the symptoms presented by the patient.
Who Should Consider This Test
This test is recommended for individuals who:
- Have a family history of glycogen storage diseases.
- Exhibit symptoms such as hypoglycemia, exercise intolerance, or muscle cramps.
- Are experiencing unexplained metabolic issues.
If you fall into any of these categories, consider discussing this test with your healthcare provider.
Benefits of Taking the Test
- Accurate diagnosis of glycogen storage disease type 0.
- Informed decision-making regarding treatment options.
- Potential for early intervention to manage symptoms.
- Insight into family planning and genetic counseling.
Understanding Your Results
Once the test is completed, results will be analyzed and interpreted by genetic specialists. It is important to understand that a positive result indicates the presence of a mutation in the GYS2 gene, which may lead to glycogen storage disease type 0. A negative result, while reassuring, does not completely rule out the possibility of other metabolic disorders. Follow-up consultations are recommended to discuss results and implications.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test | KSh 40,000 | KSh 56,000 |
Book Your Test
We have branches across Kenya, making it easy for you to access our services. To book the GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Our team is ready to assist you with any inquiries and guide you through the booking process.
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.
