GAA Gene Pompe Disease NGS Genetic DNA Test
Introduction to the Test
The GAA Gene Pompe Disease NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the GAA gene, which are responsible for Pompe disease. This genetic disorder affects muscle function and can lead to severe complications if not diagnosed early. With advancements in NGS (Next-Generation Sequencing) technology, this test provides a comprehensive analysis of the genetic material, enabling healthcare providers to make informed decisions regarding patient care.
What the Test Measures
This test specifically measures and detects mutations in the GAA gene. By analyzing the patient’s DNA, it can identify whether an individual has inherited the genetic markers associated with Pompe disease, allowing for timely diagnosis and management.
Who Should Consider This Test?
Individuals who should consider the GAA Gene Pompe Disease NGS Genetic DNA Test include:
- Those with a family history of Pompe disease.
- Patients exhibiting symptoms such as muscle weakness, respiratory issues, or developmental delays.
- Individuals at risk due to genetic predisposition.
Benefits of Taking the Test
Taking the GAA Gene Pompe Disease NGS Genetic DNA Test offers several benefits:
- Early detection of Pompe disease can lead to timely interventions.
- Informed family planning for those with a family history of the disease.
- Access to specialized care and treatment options tailored to the patient’s needs.
Understanding Your Results
Once the test is completed, results will be provided to your healthcare provider, who will explain the findings in detail. Understanding your results is crucial for determining the next steps in management and treatment. It is important to discuss any concerns with your healthcare provider to ensure comprehensive care.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across all major cities in Kenya, making it convenient for you to access our services. To book the GAA Gene Pompe Disease NGS Genetic DNA Test, please contact us at +254711564616 or visit our website. We also offer home sample collection services for your convenience.
Turnaround Time and Sample Type
Turnaround time for the test results is approximately 3 to 4 weeks. The sample type required can be:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Pre-Test Instructions
Before taking the test, it is recommended to have a genetic counseling session to draw a pedigree chart of family members affected with GAA Gene Pompe disease. Additionally, a clinical history of the patient is essential for accurate diagnosis.
Book your test today and take the first step towards understanding your genetic health!
