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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 Gaucher Disease Gene Analysis Test is typically 14-21 days.

What are the prerequisites for the test Gaucher Disease Gene Analysis Test

  • Confirmation of clinical diagnosis of Gaucher disease
  • Written informed consent from the patient or legal guardian
  • Sample type: Whole blood in EDTA tube
  • Minimum sample volume required: 3 mL
  • Sample should be transported at room temperature and processed within 48 hours of collection
  • Relevant clinical information about the patient

What are the measure values for the test Gaucher Disease Gene Analysis Test

  • Glucosylceramidase Enzyme Activity: Normal range is 15-60 nmol/hr/mg protein
  • GAA Mutation Analysis: Detection of known mutations associated with Gaucher Disease
  • Carrier Screening: Identification of carriers for Gaucher Disease mutations
  • Genetic Counseling: Interpretation of test results and counseling on implications

What does this test Gaucher Disease Gene Analysis Test identify?

The Gaucher Disease Gene Analysis Test identifies mutations in the GBA gene, which is responsible for encoding the enzyme glucocerebrosidase. Mutations in this gene can lead to a deficiency in this enzyme, causing a buildup of a fatty substance called glucocerebroside in certain organs and tissues.

Why is this test Gaucher Disease Gene Analysis Test taken?

Why is the Gaucher Disease Gene Analysis Test taken?

The Gaucher Disease Gene Analysis Test is taken to diagnose Gaucher disease, a rare genetic disorder that affects the body's ability to break down a certain type of fat. This test is typically recommended for individuals who are showing symptoms of Gaucher disease, such as enlarged liver or spleen, bone pain, and easy bruising.

The test looks for mutations in the GBA gene, which is responsible for producing an enzyme called glucocerebrosidase. Mutations in this gene can lead to a deficiency in this enzyme, causing a buildup of a fatty substance called glucocerebroside in various organs and tissues.

By identifying mutations in the GBA gene, healthcare providers can confirm a diagnosis of Gaucher disease and provide appropriate treatment and management options for affected individuals.

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