Nx Gen Sequencing Canavan Disease Test
Introduction
The Nx Gen Sequencing Canavan Disease Test is a cutting-edge diagnostic tool that plays a crucial role in identifying genetic disorders related to neurological function, specifically Canavan disease. This condition is a rare genetic disorder caused by mutations in the ASPA gene, leading to a deficiency of the enzyme aspartoacylase. Early detection through this test can significantly impact patient management and treatment options.
What the Test Measures
This test utilizes advanced Next Generation Sequencing (NGS) and Sanger sequencing methods to analyze the ASPA gene. It detects specific mutations that may cause Canavan disease, providing essential information for diagnosis.
Who Should Consider This Test?
Individuals who should consider the Nx Gen Sequencing Canavan Disease Test include:
- Those with a family history of Canavan disease or related genetic disorders.
- Patients displaying neurological symptoms such as developmental delays, loss of motor skills, or cognitive impairments.
- Individuals seeking genetic counseling or pre-conception screening.
Benefits of Taking the Test
Taking the Nx Gen Sequencing Canavan Disease Test offers numerous benefits:
- Accurate diagnosis of Canavan disease, allowing for informed decision-making.
- Early detection can lead to better management of symptoms and improved quality of life.
- Provides vital information for family planning and genetic counseling.
Understanding Your Results
Results from the Nx Gen Sequencing Canavan Disease Test will be provided within 40 working days after sample submission. A healthcare professional will assist in interpreting the results, explaining any identified mutations and their implications for health and treatment.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Nx Gen Sequencing Canavan Disease Test | 46,800 KSh | 52,000 KSh |
How to Book the Test
We have branches across Kenya, making it easy for you to access our services. For your convenience, we also offer home sample collection services. To book the Nx Gen Sequencing Canavan Disease Test, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Before taking the test, please ensure you have a duly filled Whole Exome Sequencing Consent Form (Form 37), which is mandatory for the testing process.
Sample Type and Turnaround Time
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated and do not freeze. Sample collection is done daily by 9 am.
