POLR3A Gene Leukodystrophy Hypomyelinating Type 7 NGS Genetic DNA Test
Introduction to the Test
The POLR3A Gene Leukodystrophy Hypomyelinating Type 7 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the POLR3A gene, which are associated with hypomyelinating leukodystrophies. These are rare neurological disorders that affect the brain’s myelin, the protective covering of nerve fibers, leading to severe developmental delays and neurological impairments. Understanding these genetic factors is crucial for early diagnosis and management of affected individuals.
What the Test Measures
This genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the POLR3A gene. It detects specific mutations that can lead to hypomyelination, providing valuable information about an individual’s genetic predisposition to this condition.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Those with a family history of POLR3A Gene Leukodystrophy or related neurological disorders.
- Patients exhibiting symptoms such as developmental delays, motor difficulties, or cognitive impairments.
- Individuals seeking genetic counseling to understand their risks or those planning a family.
Benefits of Taking the Test
The POLR3A Gene test offers numerous benefits:
- Early diagnosis leading to timely intervention and management strategies.
- Informed decision-making regarding family planning and genetic counseling.
- Access to targeted therapies and support resources for affected individuals.
Understanding Your Results
Results from the POLR3A Gene test will provide insights into whether a mutation is present. A positive result indicates a genetic predisposition to hypomyelinating leukodystrophy, while a negative result suggests no identified mutations. It is essential to discuss your results with a healthcare provider for appropriate guidance and next steps.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The test requires a blood sample or extracted DNA, and pre-test instructions include obtaining a clinical history and a genetic counseling session to draw a pedigree chart of affected family members.
Book Your Test Today!
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu, and offer home sample collection services for your convenience. To schedule your POLR3A Gene Leukodystrophy Hypomyelinating Type 7 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
