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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

Maximum Days for Report:

The report for the Chediak Higashi Syndrome (LYST) Gene Analysis can be obtained within 14-21 days from the date of sample submission.

What are the prerequisites for the test Chediak Higashi Syndrome (LYST) Gene Analysis

  • Peripheral blood: 5-10 ml in EDTA (purple top) tube
  • Refrigerate the sample
  • Specimen should be shipped overnight to the laboratory
  • Completed Laboratory Genetics Test Request Form
  • Family history should be completed on the Patient Information Form

What are the measure values for the test Chediak Higashi Syndrome (LYST) Gene Analysis

  • Gene Analysis: Chediak Higashi Syndrome (LYST)
  • Measure Values:
    • Gene Sequencing
    • Deletion/Duplication Analysis
    • Variant Classification
    • Interpretation of Results

What does this test Chediak Higashi Syndrome (LYST) Gene Analysis identify?

  • This test identifies mutations in the LYST gene, which is associated with Chediak Higashi Syndrome (CHS).
  • Chediak Higashi Syndrome is a rare autosomal recessive disorder characterized by a decrease in the function of immune cells, leading to recurrent infections and other symptoms.
  • Mutations in the LYST gene can affect the function of lysosomes, which are cellular organelles responsible for breaking down and recycling waste materials.
  • Identification of mutations in the LYST gene can help confirm a diagnosis of Chediak Higashi Syndrome and guide treatment options for affected individuals.

Why is this test Chediak Higashi Syndrome (LYST) Gene Analysis taken?

Chediak Higashi Syndrome (LYST) Gene Analysis

The Chediak Higashi Syndrome (LYST) Gene Analysis test is taken to identify mutations in the LYST gene that are associated with Chediak Higashi Syndrome. Chediak Higashi Syndrome is a rare genetic disorder that affects the immune system, causing recurrent infections and abnormal bleeding. Mutations in the LYST gene can lead to impaired immune function and abnormal formation of certain cell structures, known as lysosomes.

By analyzing the LYST gene, healthcare providers can diagnose Chediak Higashi Syndrome, provide appropriate treatment, and offer genetic counseling to affected individuals and their families. Early detection of mutations in the LYST gene can help in managing the symptoms and complications associated with Chediak Higashi Syndrome.

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