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Canavan Disease Test

750 د.إ

-10%

Canavan Disease Test at DNA Labs UAE

The Canavan Disease Test is a crucial genetic screening offered by DNA Labs UAE, aimed at detecting Canavan disease, a rare inherited disorder that affects the brain’s ability to send and receive messages. This condition typically manifests in infancy and is characterized by a progressive degeneration of nerve cells in the brain. The test is particularly important for individuals with a family history of the disease or those of Ashkenazi Jewish descent, who are at a higher risk.

DNA Labs UAE utilizes advanced genetic testing techniques to analyze the patient’s DNA for mutations in the ASPA gene, which are responsible for Canavan disease. The process is straightforward, requiring only a simple blood sample or cheek swab from the patient. The test is priced at 750 AED, making it accessible for those seeking peace of mind regarding their genetic health or planning for a family.

By opting for the Canavan Disease Test at DNA Labs UAE, individuals can gain valuable insights into their genetic makeup, enabling early intervention and management strategies for those affected by the disease. This proactive approach underscores the importance of genetic testing in modern healthcare, providing a pathway to better health outcomes and informed family planning decisions.

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  • This test is not intended for medical diagnosis or treatment
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CANAVAN DISEASE Test

Test Cost: AED 750.0

Symptoms, Diagnosis, and Test Details

Test Name: CANAVAN DISEASE Test

Components: Genetic testing, Magnetic Resonance Imaging (MRI), N-acetylaspartic acid (NAA) levels, Enzyme activity assay

Price: 750.0 AED

Sample Condition: 10 mL (5 mL min.) aliquot of random urine in a sterile screw capped container. Do not use preservatives. Ship refrigerated or frozen. Provide brief clinical history.

Report Delivery: Sample daily by 9 am; Report within 5 days

Method: Gas Chromatography / Mass Spectrophotometry

Test Type: Inborn errors of metabolism

Doctor: Pediatrician

Test Department: GENETIC

Pre Test Information: Provide brief clinical history.

Test Details:

Canavan disease is a genetic disorder that affects the central nervous system. It is caused by a mutation in the ASPA gene, which leads to a deficiency in the enzyme aspartoacylase. This enzyme is responsible for breaking down a substance called N-acetylaspartic acid (NAA) in the brain.

To diagnose Canavan disease, several tests can be performed:

  1. Genetic testing: This is the most reliable method to confirm a diagnosis of Canavan disease. It involves analyzing a sample of blood or saliva to identify mutations in the ASPA gene.
  2. Magnetic Resonance Imaging (MRI): An MRI scan of the brain can show characteristic changes in the white matter, which is often seen in individuals with Canavan disease. This imaging technique can help differentiate Canavan disease from other similar conditions.
  3. N-acetylaspartic acid (NAA) levels: Elevated levels of NAA in the urine or cerebrospinal fluid (CSF) can indicate Canavan disease. However, this test is not specific to Canavan disease and can also be elevated in other conditions.
  4. Enzyme activity assay: This test measures the activity of aspartoacylase in a blood or skin sample. A significant decrease or absence of enzyme activity is suggestive of Canavan disease.

It is important to note that Canavan disease is a rare disorder, and not all healthcare providers may be familiar with it. It is recommended to consult with a geneticist or a specialist experienced in diagnosing and managing Canavan disease for accurate testing and diagnosis.

Test Name CANAVAN DISEASE Test
Components
Price 750.0 AED
Sample Condition 10 mL(5 mL min.) aliqout ofrandom urine in a sterile screw capped container.Donotusepreservatives. Ship refrigerated or frozen. Providebrief clinical history.
Report Delivery Sample Daily by 9 am; Report 5 days
Method Gas Chromatography / Mass Spectrophotometry
Test type Inborn errors of metabolism
Doctor Pediatrician
Test Department: GENETIC
Pre Test Information Provide brief clinical history.
Test Details

Canavan disease is a genetic disorder that affects the central nervous system. It is caused by a mutation in the ASPA gene, which leads to a deficiency in the enzyme aspartoacylase. This enzyme is responsible for breaking down a substance called N-acetylaspartic acid (NAA) in the brain.

To diagnose Canavan disease, several tests can be performed:

1. Genetic testing: This is the most reliable method to confirm a diagnosis of Canavan disease. It involves analyzing a sample of blood or saliva to identify mutations in the ASPA gene.

2. Magnetic Resonance Imaging (MRI): An MRI scan of the brain can show characteristic changes in the white matter, which is often seen in individuals with Canavan disease. This imaging technique can help differentiate Canavan disease from other similar conditions.

3. N-acetylaspartic acid (NAA) levels: Elevated levels of NAA in the urine or cerebrospinal fluid (CSF) can indicate Canavan disease. However, this test is not specific to Canavan disease and can also be elevated in other conditions.

4. Enzyme activity assay: This test measures the activity of aspartoacylase in a blood or skin sample. A significant decrease or absence of enzyme activity is suggestive of Canavan disease.

It is important to note that Canavan disease is a rare disorder, and not all healthcare providers may be familiar with it. It is recommended to consult with a geneticist or a specialist experienced in diagnosing and managing Canavan disease for accurate testing and diagnosis.