Canavan Disease (ASPA) Gene Panel by NGS, EDTA Blood**

What is the Canavan Disease (ASPA) Gene Analysis Test?

The Canavan Disease (ASPA) Gene Analysis Test is a genetic blood test used to diagnose Canavan disease, a rare inherited disorder that affects the white matter of the brain. The condition leads to progressive damage of nerve cells, primarily beginning in infancy.

This test analyses the ASPA gene using next generation sequencing technology to identify disease causing genetic changes. Confirming the diagnosis helps doctors understand disease severity, guide supportive care, and provide accurate genetic counselling for families. The test requires a blood sample collected in an EDTA tube.

What Does the Canavan Disease (ASPA) Gene Analysis Test Measure?

This genetic test looks for disease causing changes in the ASPA gene:

• Detects pathogenic variants responsible for Canavan disease
• Helps confirm the cause of progressive neurodegeneration in infants
• Supports early and accurate diagnosis of leukodystrophy
• Aids genetic counselling and family screening
• Assists in prognosis and long term care planning

Canavan Disease (ASPA) Gene Analysis Test: Who Needs It and Why It’s Done

What Symptoms May Call for a Canavan Disease (ASPA) Gene Analysis Test?

Doctors may recommend this test if an infant or child shows:

• Developmental delay beginning in early infancy
• Poor head control or loss of motor milestones
• Enlarged head size over time
• Feeding difficulties or muscle weakness
• Seizures or abnormal muscle tone

Who Should Get a Canavan Disease (ASPA) Gene Analysis Test?

This test may be advised for:

• Infants with suspected leukodystrophy
• Children with unexplained progressive neurological decline
• Families with a known history of Canavan disease
• Parents planning future pregnancies after an affected child
• Individuals requiring confirmation of diagnosis for supportive care planning

Why is the Canavan Disease (ASPA) Gene Analysis Test Done?

The test helps confirm the genetic cause of Canavan disease, allowing families and doctors to plan appropriate care, anticipate disease progression, and receive accurate genetic counselling.

Canavan Disease (ASPA) Gene Analysis Test Booking & Reports – Metropolis Healthcare

How to Book the Canavan Disease (ASPA) Gene Analysis Test and Get Your Reports?

1. Simple Online Booking
   Booking can be done through the Metropolis Healthcare App or website. Select the Canavan Disease (ASPA) Gene Analysis Test, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
2. Safe Home Sample Collection
   Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
3. Sample Tracking Updates
   You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
4. Accurate Laboratory Testing
   Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
5. Quick and Easy Reports
   Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Canavan Disease (ASPA) Gene Analysis Test Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Canavan Disease (ASPA) Gene Analysis Test. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the Canavan Disease (ASPA) Gene Analysis Test Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Canavan Disease (ASPA) Gene Analysis Test Results?

You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Canavan Disease (ASPA) Gene Analysis Test Results

What Your Canavan Disease (ASPA) Gene Analysis Results May Indicate

Understanding Abnormal Canavan Disease (ASPA) Gene Analysis Results

How Should You Prepare for a Canavan Disease (ASPA) Gene Analysis Test?

This genetic test requires minimal preparation from your side:

• No fasting required: You can eat and drink normally before sample collection
• Normal hydration: Maintain your usual fluid intake
• Medication disclosure: Inform your doctor about any medicines or supplements
• Share clinical history: Provide relevant medical and family history as advised
• Consent and documentation: Ensure the test requisition form and genetic history details are completed

How Is a Canavan Disease (ASPA) Gene Analysis Test Done? (Step-by-Step Procedure)

The test is performed using a standard blood collection process:

• Preparation: A tourniquet is tied around your arm to make veins more visible
• Cleaning: The puncture site is cleaned with antiseptic
• Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
• Completion: The needle is removed, and a bandage is applied
• Processing: The sample undergoes next generation sequencing to analyse the ASPA gene

Conditions That May Affect Canavan Disease (ASPA) Gene Analysis Test Accuracy

Certain patient related factors may influence test interpretation:

• Recent blood transfusion, which may affect genetic analysis
• Incomplete or inaccurate family history information
• Presence of mosaic genetic changes requiring clinical correlation

Diseases That the Canavan Disease (ASPA) Gene Analysis Test Can Help Detect

• Canavan disease
• Genetic leukodystrophies
• Inherited neurodegenerative metabolic disorders

References

1. Matalon R., Michals K., Sebesta D., et al. (1988). Aspartoacylase deficiency and N-acetylaspartic aciduria in Canavan disease. American Journal of Medical Genetics, 29(2), 463–471. PMID: 3358596
2. Baslow M.H. (2003). Canavan disease, a metabolic leukodystrophy: clinical and molecular aspects. Molecular Genetics and Metabolism, 79(2), 95–104. PMID: 12809638
3. Leone P., Shera D., McPhee S.W.J., et al. (2012). Long-term follow-up after gene therapy for Canavan disease. Science Translational Medicine, 4(165), 165ra163. PMID: 23115383