Nx Gen Sequencing Alexander Disease Test
Introduction to the Test
The Nx Gen Sequencing Alexander Disease Test is an advanced molecular diagnostic tool that utilizes next-generation sequencing (NGS) and Sanger sequencing methods to identify genetic mutations associated with Alexander Disease. This rare neurological disorder primarily affects infants and young children, leading to severe neurological symptoms, including spasticity and seizures. Early diagnosis is crucial for effective management and treatment.
What the Test Measures
This test specifically detects mutations in the GFAP gene, which are responsible for Alexander Disease. By analyzing the whole exome, the test provides comprehensive insights into the genetic factors contributing to the condition.
Who Should Consider This Test?
Patients exhibiting the following symptoms should consider undergoing the Nx Gen Sequencing Alexander Disease Test:
- Severe and progressive spasticity
- Recurrent seizures
- Developmental delays
- Neurological decline
Additionally, individuals with a family history of genetic disorders, particularly those affecting the nervous system, may also benefit from this test.
Benefits of Taking the Test
- Accurate identification of genetic mutations associated with Alexander Disease.
- Guides treatment options and management strategies for affected individuals.
- Provides critical information for family planning and genetic counseling.
- Facilitates early intervention, which can improve patient outcomes.
Understanding Your Results
Results from the Nx Gen Sequencing Alexander Disease Test will be provided within 40 working days. A positive result indicates the presence of mutations in the GFAP gene, confirming a diagnosis of Alexander Disease. Negative results may suggest that the symptoms are due to other causes, and further investigation may be warranted. It is essential to discuss your results with a qualified healthcare provider, such as a neurologist or pediatrician, for comprehensive interpretation and guidance.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Nx Gen Sequencing Alexander Disease Test | 46,800 KSh | 52,000 KSh |
Sample Collection and Pre-Test Instructions
To perform the test, please submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ensure that the samples are shipped refrigerated and not frozen. Additionally, a duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory for the test to proceed.
Branches and Home Sample Collection
We have branches across all major cities in Kenya, including Nairobi, Mombasa, Kisumu, and Nakuru. We also offer a convenient home sample collection service for your ease and comfort.
Book Your Test Today!
Don’t wait for symptoms to worsen. Book the Nx Gen Sequencing Alexander Disease Test today by calling or WhatsApp us at +254711564616. Take the first step towards understanding your health and ensuring a better future.
