METACHROMATIC LEUCODYSTROPHY QUANTITATIVE BLOOD Test
Test Name: METACHROMATIC LEUCODYSTROPHY QUANTITATIVE BLOOD Test
Components: ARSA enzyme activity level
Price: 440.0 AED
Sample Condition: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) tubes OR 10 mL (7.5 mL min.) whole blood from 3 Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Provide brief clinical history.
Report Delivery: Sample Daily by 4 pm; Report 4 days
Method: Spectrophotometry
Test type: Inborn errors of metabolism
Doctor: Pediatrician
Test Department: GENETIC
Pre Test Information: Provide brief clinical history.
Test Details:
Metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of an enzyme called arylsulfatase A (ARSA), which leads to the accumulation of a substance called sulfatide in the brain and other tissues.
A quantitative blood test for MLD involves measuring the activity level of ARSA enzyme in the blood. This test can help diagnose MLD and determine the severity of the disease.
During the test, a blood sample is taken from the individual and sent to a laboratory for analysis. The laboratory measures the activity level of ARSA enzyme in the blood, typically using a method called enzyme assay. The result is then compared to the normal range of ARSA activity to determine if there is a deficiency.
A lower than normal activity level of ARSA enzyme in the blood suggests a possible diagnosis of MLD. However, it is important to note that this test alone may not be sufficient for diagnosis, as other conditions can also cause a decrease in ARSA activity. Therefore, additional tests, such as genetic testing or a nerve biopsy, may be necessary to confirm the diagnosis of MLD.
It is recommended to consult with a healthcare professional or a genetic counselor for further information and guidance regarding the quantitative blood test for MLD.
Test Name | METACHROMATIC LEUCODYSTROPHY QUANTITATIVE BLOOD Test |
---|---|
Components | |
Price | 440.0 AED |
Sample Condition | 10 mL (7.5 mL min.) whole blood from\n3 Lavender Top (EDTA) tubes OR 10 mL (7.5 mL min.) whole blood from 3 Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Provide brief clinical history. |
Report Delivery | Sample Daily by 4 pm; Report 4 days |
Method | Spectrophotometry |
Test type | Inborn errors of metabolism |
Doctor | Pediatrician |
Test Department: | GENETIC |
Pre Test Information | Provide brief clinical history. |
Test Details |
Metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of an enzyme called arylsulfatase A (ARSA), which leads to the accumulation of a substance called sulfatide in the brain and other tissues. A quantitative blood test for MLD involves measuring the activity level of ARSA enzyme in the blood. This test can help diagnose MLD and determine the severity of the disease. During the test, a blood sample is taken from the individual and sent to a laboratory for analysis. The laboratory measures the activity level of ARSA enzyme in the blood, typically using a method called enzyme assay. The result is then compared to the normal range of ARSA activity to determine if there is a deficiency. A lower than normal activity level of ARSA enzyme in the blood suggests a possible diagnosis of MLD. However, it is important to note that this test alone may not be sufficient for diagnosis, as other conditions can also cause a decrease in ARSA activity. Therefore, additional tests, such as genetic testing or a nerve biopsy, may be necessary to confirm the diagnosis of MLD. It is recommended to consult with a healthcare professional or a genetic counselor for further information and guidance regarding the quantitative blood test for MLD. |