Nx Gen Sequencing Canavan Disease Test
The Nx Gen Sequencing Canavan Disease Test is a cutting-edge diagnostic tool that plays a critical role in identifying Canavan disease, a rare genetic disorder. This test utilizes next-generation sequencing (NGS) technology to analyze genetic material and detect mutations associated with the disease. Understanding the genetic basis of Canavan disease is essential for effective management and treatment of affected individuals.
What the Test Measures
This test focuses on detecting mutations in the ASPA gene, which are responsible for Canavan disease. By analyzing the genetic sequence, healthcare providers can identify specific genetic defects that may lead to this condition.
Who Should Consider This Test?
The Nx Gen Sequencing Canavan Disease Test is recommended for:
- Individuals with a family history of Canavan disease or other genetic disorders.
- Patients exhibiting symptoms such as developmental delays, loss of motor skills, and increased head size.
- Parents considering having children and wanting to understand their genetic risks.
Benefits of Taking the Test
- Accurate diagnosis of Canavan disease and related genetic disorders.
- Informed decision-making for treatment and management options.
- Guidance for family planning and understanding genetic risks.
- Peace of mind through early detection and intervention.
Understanding Your Results
After the test, results will be provided within 40 working days. It is essential to discuss the findings with a healthcare provider who can explain the implications and guide you on the next steps based on the results.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Nx Gen Sequencing Canavan Disease Test | 468000 NGN | 520000 NGN |
How to Book the Test
To schedule your Nx Gen Sequencing Canavan Disease Test, please contact us at +2348077798758. We are here to assist you in understanding your health and making informed decisions.
Note: A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory before the test. Please submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes, shipped refrigerated, and do not freeze the samples.
For more information, please consult with a neurologist or pediatrician specializing in genetic disorders.