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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 Fabry Disease Gene Analysis Test is typically 14 days.

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

  • Patient must have symptoms suggestive of Fabry disease
  • Physician referral
  • Insurance coverage or payment arrangement
  • Consent form signed by patient or legal guardian
  • Completed patient information form

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

  • Gene Analysis: Fabry Disease
  • Test Code: 12345
  • Sample Type: Blood
  • Turnaround Time: 2 weeks
  • Method: Polymerase Chain Reaction (PCR)
  • Reference Range: Negative for Fabry Disease gene mutation

What does this test Fabry Disease Gene Analysis Test identify?

This test identifies mutations in the GLA gene, which is associated with Fabry disease. Fabry disease is a rare genetic disorder that results in the buildup of a certain type of fat in the body's cells, leading to a range of symptoms including pain, skin rashes, kidney problems, and heart issues.

Why is this test Fabry Disease Gene Analysis Test taken?

  • Overview: The Fabry Disease Gene Analysis Test is taken to diagnose Fabry disease, a rare genetic disorder that affects the body's ability to break down a specific type of fat.
  • Symptoms: Individuals with Fabry disease may experience symptoms such as pain, kidney problems, skin rashes, and heart issues. These symptoms can vary in severity and onset.
  • Genetic Testing: The Fabry Disease Gene Analysis Test looks for mutations in the GLA gene, which is responsible for producing an enzyme that breaks down fats. Mutations in this gene can lead to the buildup of fats in various tissues and organs.
  • Diagnosis: By identifying mutations in the GLA gene, healthcare providers can confirm a diagnosis of Fabry disease and provide appropriate treatment and management strategies for the individual.
  • Treatment: Treatment options for Fabry disease may include enzyme replacement therapy, medications to manage symptoms, and lifestyle modifications to help improve quality of life.

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