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Parameters

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Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days for obtaining the report for the Lysosomal Storage Disorders Test is 14 days.

What are the prerequisites for the test Lysosomal Storage Disorders Test

  • A blood sample is required for this test.
  • Patient should have symptoms suggestive of a lysosomal storage disorder, such as organ enlargement, skeletal abnormalities, developmental delays, neurological symptoms, or other signs of multi-system involvement.
  • Patient should not have received a blood transfusion within the past 3 months, as this can interfere with test results.
  • Patient should not be on enzyme replacement therapy, as this can also affect test results.

What are the measure values for the test Lysosomal Storage Disorders Test

  • Lysosomal Storage Disorders Test
  • Measure Values:
    • Enzyme Activity Levels
    • Genetic Testing Results
    • Biomarker Levels
    • Cellular Storage Material Levels

What does this test Lysosomal Storage Disorders Test identify?

Lysosomal Storage Disorders Test

The Lysosomal Storage Disorders Test is a diagnostic test that helps identify various lysosomal storage disorders. Lysosomal storage disorders are a group of inherited metabolic diseases that result from defects in lysosomal function, leading to the accumulation of undigested substances in the lysosomes. These disorders can affect various organs and tissues in the body, causing a wide range of symptoms.

  • Identifies specific lysosomal storage disorders: The test can help identify specific lysosomal storage disorders such as Gaucher disease, Fabry disease, Pompe disease, Niemann-Pick disease, and Tay-Sachs disease, among others.
  • Assesses enzyme activity levels: The test measures the activity levels of specific lysosomal enzymes in the blood or other tissues to determine if they are deficient, which can indicate the presence of a lysosomal storage disorder.
  • Confirms diagnosis: By identifying the specific lysosomal storage disorder and assessing enzyme activity levels, the test can help confirm a diagnosis and guide treatment decisions.

Why is this test Lysosomal Storage Disorders Test taken?

The Lysosomal Storage Disorders Test is taken to diagnose a group of rare inherited metabolic disorders known as lysosomal storage disorders. These disorders result from a deficiency of specific enzymes that are responsible for breaking down certain substances in the body. As a result, these substances accumulate in the lysosomes of cells, leading to a wide range of symptoms and complications.

Symptoms of lysosomal storage disorders can vary widely and may include developmental delays, organ enlargement, skeletal abnormalities, neurological problems, and other health issues. Early diagnosis and treatment of these disorders are important in managing symptoms and preventing further complications.

The Lysosomal Storage Disorders Test typically involves measuring the activity levels of specific enzymes in blood or other tissues. Abnormal enzyme levels can indicate the presence of a lysosomal storage disorder and help healthcare providers determine the appropriate treatment and management plan for the individual.

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