Canavan Disease Test

Introduction to Canavan Disease

Canavan Disease is a rare genetic disorder that affects the brain’s ability to metabolize certain substances, leading to severe neurological impairment. This condition is classified as an inborn error of metabolism, and early diagnosis is crucial for managing symptoms and improving quality of life.

Importance of the Test

The Canavan Disease Test is essential for identifying individuals who carry the genetic mutation responsible for this condition. Early detection allows for timely interventions, which can significantly enhance the management of the disease.

What the Test Measures

This test detects the presence of the ASPA gene mutation, which is responsible for Canavan Disease. By analyzing urine samples through Gas Chromatography / Mass Spectrophotometry, healthcare providers can confirm the diagnosis.

Who Should Consider This Test?

Individuals who should consider the Canavan Disease Test include:

• Children showing symptoms of neurological impairment
• Individuals with a family history of Canavan Disease
• Parents who are carriers of the genetic mutation

Benefits of Taking the Test

• Early diagnosis allows for better management of symptoms.
• Informed family planning for at-risk couples.
• Access to specialized care and support services.

Understanding Your Results

Results from the Canavan Disease Test typically take five days. A positive result indicates the presence of the ASPA mutation, while a negative result suggests that the mutation is not present. It is essential to discuss your results with a healthcare provider for further guidance and management options.

Test Pricing

Book the Test Today!

To take the Canavan Disease Test, please provide a brief clinical history and follow the pre-test instructions. Sample collection is done daily by 9 am, and results are typically available within five days. Contact us at +2348077798758 to book your test today!