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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 the report can be obtained for the Galactosialidosis Gene Analysis Test is typically 14-21 days.

What are the prerequisites for the test Galactosialidosis Gene Analysis Test

  • Confirmation of clinical diagnosis
  • Family history of galactosialidosis
  • Consent form signed by patient or legal guardian

What are the measure values for the test Galactosialidosis Gene Analysis Test

  • Galactosialidosis Gene Analysis Test
  • Measure Values:
  • - Enzyme Activity: Less than 10% of normal levels
  • - Genetic Mutation Analysis: Presence of mutations in the CTSA gene
  • - Urinary Oligosaccharides: Elevated levels

What does this test Galactosialidosis Gene Analysis Test identify?

  1. Galactosialidosis Gene Analysis Test
    • Identifies mutations in the CTSA gene that are associated with galactosialidosis, a rare inherited lysosomal storage disorder characterized by a deficiency of the protective enzyme cathepsin A.
    • Helps in diagnosing galactosialidosis, which presents with symptoms such as skeletal abnormalities, intellectual disability, coarse facial features, and organ enlargement.
    • Enables genetic counseling and family planning for individuals with a family history of galactosialidosis.

Why is this test Galactosialidosis Gene Analysis Test taken?

Galactosialidosis Gene Analysis Test

The Galactosialidosis Gene Analysis Test is taken to diagnose galactosialidosis, a rare inherited disorder that affects the metabolism of certain sugars in the body. This test is usually recommended when a healthcare provider suspects galactosialidosis based on symptoms such as developmental delays, skeletal abnormalities, organ enlargement, and intellectual disability.

The test analyzes the GLB1 gene, which is responsible for producing the enzymes needed to break down certain sugars. Mutations in this gene can lead to a deficiency of these enzymes, resulting in the symptoms of galactosialidosis. By identifying mutations in the GLB1 gene, healthcare providers can confirm a diagnosis of galactosialidosis and provide appropriate treatment and management for the condition.

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