POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A2 NGS Genetic DNA Test
Introduction to the Test
The POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A2 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify specific genetic mutations associated with muscular dystrophy and related neurological disorders. This test is significant as it helps in early diagnosis, guiding treatment options and management strategies for affected individuals.
What the Test Measures
This genetic test measures the presence of mutations in the POMT2 gene, which is crucial for proper muscle and brain development. By utilizing Next Generation Sequencing (NGS) technology, it provides a comprehensive analysis of the genetic material to detect anomalies that may lead to muscular dystrophy and other related conditions.
Who Should Consider This Test?
Individuals who exhibit symptoms such as:
- Muscle weakness
- Developmental delays
- Eye abnormalities
- Neurological issues
Additionally, those with a family history of muscular dystrophy or related disorders should consider this test. Risk factors include genetic predisposition and known mutations within the family.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions
- Informed decision-making regarding treatment options
- Understanding of potential risks for family members
- Access to genetic counseling for better management of the condition
Understanding Your Results
Results from the POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Test will be interpreted by qualified genetic specialists. It is important to discuss these results with a healthcare provider to understand the implications and potential next steps in care.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across Kenya and offer a convenient home sample collection service. To book your test or for more information, please call or WhatsApp us at +254711564616. Don’t wait to take control of your health!
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 POMT2 Gene Muscular Dystrophy-Dystroglycanopathy.
