Short Description

Canavan disease is a progressive, fatal neurological disorder that begins in infancy. Symptoms of Canavan disease are caused due to high levels of N-Acetylaspartic acid.

PreTest Information

Provide brief clinical history.

Detail Description

CANAVAN DISEASE Test Cost INR:4500 Symptoms Diagnosis

Canavan disease is a rare genetic disorder that affects the brain's white matter. The disease is caused by a deficiency in the enzyme aspartoacylase. This enzyme is responsible for breaking down a substance called N-acetylaspartic acid (NAA) in the brain. The buildup of NAA leads to the destruction of the brain's white matter, which is responsible for transmitting signals between different parts of the brain.

Symptoms of Canavan Disease

The symptoms of Canavan disease usually appear within the first few months of life. These symptoms include:

• Poor head control
• Abnormal muscle tone
• Failure to reach developmental milestones
• Seizures
• Loss of vision and hearing
• Difficulty swallowing
• Increased head size

Diagnosis of Canavan Disease

Canavan disease can be diagnosed through genetic testing. This test looks for mutations in the ASPA gene, which is responsible for producing the aspartoacylase enzyme. If a mutation is found, the diagnosis of Canavan disease is confirmed.

CANAVAN DISEASE Test Cost

At DNA Labs India, the cost of a Canavan disease test is INR 4500. This test is performed using a blood sample, and results are typically available within two weeks.

Conclusion

Canavan disease is a rare genetic disorder that affects the brain's white matter. The disease can be diagnosed through genetic testing, which is available at DNA Labs India for INR 4500. If you suspect that your child may be affected by Canavan disease, it is important to consult with a healthcare provider as soon as possible.

For more information on Canavan disease or to schedule a genetic test, please contact DNA Labs India.