POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 NGS Genetic DNA Test
Introduction
The POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 NGS Genetic DNA Test is an advanced diagnostic tool designed to identify genetic mutations associated with a range of congenital neurological disorders. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results, enabling healthcare providers to offer tailored treatment plans.
What the Test Measures
This genetic test specifically measures mutations in the POMGNT2 gene, which plays a critical role in muscle and brain development. By identifying these mutations, the test helps in diagnosing conditions that may lead to muscular dystrophy and associated neurological anomalies.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Patients exhibiting symptoms of muscular dystrophy or related neurological disorders.
- Families with a history of congenital disorders, particularly those affecting muscle and brain function.
- Individuals with unexplained developmental delays or neurological anomalies.
Benefits of Taking the Test
The POMGNT2 Gene test offers numerous benefits:
- Early diagnosis of genetic conditions, allowing for timely intervention.
- Informed decision-making regarding treatment and management options.
- Insight into family planning and genetic counseling for affected families.
- Access to specialized care from neurologists and geneticists.
Understanding Your Results
Results from the POMGNT2 Gene test will provide insights into the presence or absence of specific genetic mutations. It is essential to consult with a healthcare professional to interpret these results accurately and discuss potential implications for treatment and family planning.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 40,000 KSh | 56,000 KSh |
Sample Type and Instructions
Sample types accepted for this test include:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Pre-test instructions include obtaining a clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.
Turnaround Time
The expected turnaround time for results is approximately 3 to 4 weeks.
Book Your Test Today!
We have branches across all major cities in Kenya, making it convenient for you to access our services. To book the POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 NGS Genetic DNA Test, please call or WhatsApp us at +254713408028.
