POMPE DISEASE QUANTITATIVE BLOOD Test
Components: Price 570.0 AED
Sample Condition: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA)/Green Top (Sodium Heparin) tubes. Ship refrigerated within 48 hours. Clinical history is mandatory.
Report Delivery: Sample Daily by 4pm; Report 4 days
Method: Enzyme assay
Test type: Inborn errors of metabolism
Doctor: Pediatrician
Test Department: GENETIC
Pre Test Information: Clinical history is mandatory.
Test Details:
A quantitative blood test for Pompe disease measures the level of the enzyme called acid alpha-glucosidase (GAA) in the blood. Pompe disease is a rare genetic disorder characterized by the deficiency or absence of this enzyme. The test involves drawing a blood sample from the individual and analyzing it in a laboratory. The GAA enzyme level in the blood is measured using various techniques, such as enzyme activity assays or immunoassays. A low level of GAA enzyme activity or a deficiency indicates the presence of Pompe disease. This quantitative blood test helps in diagnosing the disease and monitoring the response to treatment. It is important to note that the quantitative blood test alone may not be sufficient for a definitive diagnosis of Pompe disease. Additional diagnostic tests, such as genetic testing or muscle biopsies, may be required to confirm the diagnosis. If you suspect you or someone you know may have Pompe disease, it is recommended to consult with a healthcare professional who can provide a proper evaluation and order the necessary tests.
Test Name | POMPE DISEASE QUANTITATIVE BLOOD Test |
---|---|
Components | |
Price | 570.0 AED |
Sample Condition | 10 mL (7.5 mL min.) whole blood from 3LavenderTop(EDTA)\/GreenTop (SodiumHeparin)tubes. Ship refrigerated within 48 hours. Clinical historyis mandatory. |
Report Delivery | SampleDailyby4pm;Report4days |
Method | Enzyme assay |
Test type | Inborn errors of metabolism |
Doctor | Pediatrician |
Test Department: | GENETIC |
Pre Test Information | Clinical historyis mandatory. |
Test Details | A quantitative blood test for Pompe disease measures the level of the enzyme called acid alpha-glucosidase (GAA) in the blood. Pompe disease is a rare genetic disorder characterized by the deficiency or absence of this enzyme. The test involves drawing a blood sample from the individual and analyzing it in a laboratory. The GAA enzyme level in the blood is measured using various techniques, such as enzyme activity assays or immunoassays. A low level of GAA enzyme activity or a deficiency indicates the presence of Pompe disease. This quantitative blood test helps in diagnosing the disease and monitoring the response to treatment. It is important to note that the quantitative blood test alone may not be sufficient for a definitive diagnosis of Pompe disease. Additional diagnostic tests, such as genetic testing or muscle biopsies, may be required to confirm the diagnosis. If you suspect you or someone you know may have Pompe disease, it is recommended to consult with a healthcare professional who can provide a proper evaluation and order the necessary tests. |