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Pompe Disease Quantitative Blood Test Cost

Name: Pompe Disease Quantitative Blood Test Cost
SKU: TEST-6204
Price: 570 AED
Availability: InStock

Original price was: 640 د.إ.Current price is: 570 د.إ.

-11%

The Pompe Disease Quantitative Blood Test is a specialized diagnostic procedure designed to detect and quantify the enzyme activity associated with Pompe disease, a rare, inherited lysosomal storage disorder. This condition is caused by mutations in the gene that makes an enzyme called acid alpha-glucosidase (GAA). The absence or low levels of GAA lead to the accumulation of glycogen in the body’s cells, which can cause damage to muscle tissues and affect various bodily functions.

The test measures the amount of GAA enzyme activity in the blood, providing crucial information for the diagnosis and management of Pompe disease. It is particularly important for early detection and intervention, which can significantly improve the quality of life and prognosis for affected individuals.

At DNA Labs UAE, the Pompe Disease Quantitative Blood Test is available for 570 AED. DNA Labs UAE is equipped with advanced diagnostic technologies and staffed by experienced professionals to ensure accurate and reliable test results. This test is essential for individuals with a family history of Pompe disease or those exhibiting symptoms related to the disorder, such as muscle weakness, respiratory difficulties, and heart problems. Early diagnosis through this test can facilitate timely treatment and management strategies, including enzyme replacement therapy and supportive care, to mitigate the effects of the disease.

Description

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.