GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test
Introduction
The GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test is a cutting-edge diagnostic tool used to identify Pompe disease, a serious metabolic disorder caused by the deficiency of the enzyme acid alpha-glucosidase (GAA). This test plays a critical role in early diagnosis, allowing for timely interventions that can significantly improve patient outcomes.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to detect mutations in the GAA gene. By analyzing the genetic material, the test can identify the presence of pathogenic variants that may lead to the development of Glycogen Storage Disease Type 2.
Who Should Consider This Test
Individuals who should consider the GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test include:
- Those with symptoms such as muscle weakness, respiratory issues, or heart complications.
- Individuals with a family history of Pompe disease or other metabolic disorders.
- Patients who have undergone clinical evaluations suggesting metabolic dysfunction.
Benefits of Taking the Test
Taking the GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test offers several benefits:
- Early diagnosis of Pompe disease, enabling proactive management.
- Informed decisions regarding treatment options and family planning.
- Access to genetic counseling for affected family members.
Understanding Your Results
Upon receiving your test results, it is essential to consult with a healthcare professional for interpretation. A positive result may indicate the presence of mutations associated with Glycogen Storage Disease Type 2, while a negative result may provide reassurance. Genetic counseling is recommended to understand the implications of the results for you and your family.
Test Details
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking the Test
To book the GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with scheduling and any questions 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: Clinical History of Patient who is going for GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 2.
Contact us today to ensure your health and the health of your family with timely and accurate genetic testing.
