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Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test

1,100 د.إ

-10%

The Mucopolysaccharidosis (MPS) Type 1 Hurler Quantitative Blood Test is a specialized diagnostic examination available at DNA Labs UAE, designed to detect and quantify specific enzyme levels associated with MPS Type 1, also known as Hurler syndrome. MPS Type 1 is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase, leading to the accumulation of glycosaminoglycans in the body, which can affect multiple organ systems and lead to severe symptoms. This test plays a crucial role in the early diagnosis and management of the condition, allowing for timely intervention and treatment strategies to be implemented. The cost of the test is set at 1100 AED, reflecting the specialized nature of the analysis and the advanced technology utilized in the process. Conducted at DNA Labs UAE, a facility known for its state-of-the-art diagnostic services, this test is a vital tool for healthcare professionals and families seeking to understand and manage MPS Type 1 Hurler syndrome.

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MUCOPOLYSACCHARIDOSIS MPS TYPE 1 HURLER QUANTITATIVE BLOOD Test

Test Name: MUCOPOLYSACCHARIDOSIS MPS TYPE 1 HURLER QUANTITATIVE BLOOD Test

Components: Price: 1100.0 AED

Sample Condition: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) tubes OR 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: Enzyme assay

Test type: Inborn errors of metabolism

Doctor: Pediatrician

Test Department: GENETIC

Pre Test Information: Provide brief clinical history.

Test Details

A quantitative blood test for Mucopolysaccharidosis (MPS) type 1, also known as Hurler syndrome, measures the levels of specific enzymes in the blood. This test is used to diagnose MPS type 1 and to monitor the effectiveness of treatment.

MPS type 1 is a rare genetic disorder characterized by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is responsible for breaking down certain complex carbohydrates called glycosaminoglycans (GAGs) in the body. In individuals with MPS type 1, the deficiency of this enzyme leads to the accumulation of GAGs in various tissues and organs, causing progressive damage.

The quantitative blood test for MPS type 1 measures the activity levels of alpha-L-iduronidase in the blood. A low activity level indicates a deficiency of the enzyme, which is characteristic of MPS type 1. The test may be performed on individuals suspected of having MPS type 1 based on clinical symptoms, family history, or abnormal findings in other diagnostic tests.

It is important to note that this blood test alone cannot confirm a diagnosis of MPS type 1. Additional diagnostic tests, such as genetic testing or urine analysis, may be necessary to confirm the diagnosis.

Early diagnosis of MPS type 1 is crucial for initiating appropriate treatment and management strategies. Enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are the current treatment options available for MPS type 1. Regular monitoring of enzyme activity levels through quantitative blood tests is important to assess the response to treatment and disease progression.

Test Name MUCOPOLYSACCHARIDOSIS MPS TYPE 1 HURLER QUANTITATIVE BLOOD Test
Components
Price 1100.0 AED
Sample Condition 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) tubes OR 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 Enzyme assay
Test type Inborn errors of metabolism
Doctor Pediatrician
Test Department: GENETIC
Pre Test Information Provide brief clinical history.
Test Details

A quantitative blood test for Mucopolysaccharidosis (MPS) type 1, also known as Hurler syndrome, measures the levels of specific enzymes in the blood. This test is used to diagnose MPS type 1 and to monitor the effectiveness of treatment.

MPS type 1 is a rare genetic disorder characterized by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is responsible for breaking down certain complex carbohydrates called glycosaminoglycans (GAGs) in the body. In individuals with MPS type 1, the deficiency of this enzyme leads to the accumulation of GAGs in various tissues and organs, causing progressive damage.

The quantitative blood test for MPS type 1 measures the activity levels of alpha-L-iduronidase in the blood. A low activity level indicates a deficiency of the enzyme, which is characteristic of MPS type 1. The test may be performed on individuals suspected of having MPS type 1 based on clinical symptoms, family history, or abnormal findings in other diagnostic tests.

It is important to note that this blood test alone cannot confirm a diagnosis of MPS type 1. Additional diagnostic tests, such as genetic testing or urine analysis, may be necessary to confirm the diagnosis.

Early diagnosis of MPS type 1 is crucial for initiating appropriate treatment and management strategies. Enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are the current treatment options available for MPS type 1. Regular monitoring of enzyme activity levels through quantitative blood tests is important to assess the response to treatment and disease progression.