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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 a report for the Farber Lipogranulomatosis Gene Analysis test is 21 days.

What are the prerequisites for the test Farber Lipogranulomatosis Gene Analysis

  • Patient must have clinical symptoms consistent with Farber lipogranulomatosis
  • Physician referral
  • Completed test requisition form
  • Specimen collection kit
  • Specimen must be collected by a healthcare professional

What are the measure values for the test Farber Lipogranulomatosis Gene Analysis

  • Presence or absence of mutations in the ASAH1 gene
  • Identification of specific mutations in the ASAH1 gene
  • Confirmation of Farber lipogranulomatosis diagnosis
  • Assessment of disease severity and progression

What does this test Farber Lipogranulomatosis Gene Analysis identify?

  • Faber Lipogranulomatosis Gene Analysis is a test that identifies mutations in the ASAH1 gene.
  • The ASAH1 gene provides instructions for making an enzyme called acid ceramidase, which plays a critical role in breaking down a fatty substance called ceramide.
  • Individuals with mutations in the ASAH1 gene are unable to properly break down ceramide, leading to the accumulation of this fatty substance in various tissues of the body.
  • This build-up of ceramide can result in the development of symptoms associated with Farber Lipogranulomatosis, a rare, inherited disorder characterized by joint deformities, hoarseness, nodules under the skin, and other systemic issues.

Why is this test Farber Lipogranulomatosis Gene Analysis taken?

  1. This test is taken to diagnose Farber lipogranulomatosis, a rare inherited disorder characterized by the accumulation of fatty substances in cells and tissues throughout the body.
  2. It helps in identifying mutations in the ASAH1 gene, which is responsible for encoding an enzyme called acid ceramidase. Mutations in this gene lead to a deficiency in acid ceramidase, causing the build-up of ceramide in cells.
  3. Early diagnosis through genetic testing can help in implementing appropriate treatment and management strategies to improve the quality of life for individuals with Farber lipogranulomatosis.

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