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:
- 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.
- 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.
- 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.
- 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. |
