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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 Wilson Disease (ATP7B) Gene Analysis Test is typically 2-3 weeks after the sample is received by the laboratory.

What are the prerequisites for the test Wilson Disease (ATP7B) Gene Analysis Test

  • Patients suspected of having Wilson Disease based on clinical symptoms such as liver disease, neurological symptoms, psychiatric symptoms, or Kayser-Fleischer rings.
  • Family history of Wilson Disease.
  • Elevated hepatic copper content or low serum ceruloplasmin levels.
  • Confirmation of Wilson Disease diagnosis through other tests such as liver biopsy or copper quantification.

What are the measure values for the test Wilson Disease (ATP7B) Gene Analysis Test

  • Test Name: Wilson Disease (ATP7B) Gene Analysis Test
  • Measure Values:
    • ATP7B Gene Mutation Detected
    • ATP7B Gene Mutation Not Detected

What does this test Wilson Disease (ATP7B) Gene Analysis Test identify?

  • Wilson Disease (ATP7B) Gene Analysis Test identifies mutations in the ATP7B gene, which is responsible for encoding a protein involved in copper transport and metabolism.
  • Individuals with mutations in the ATP7B gene may have impaired copper transport, leading to copper accumulation in various organs such as the liver, brain, and corneas.
  • This test can help in diagnosing Wilson Disease, a rare inherited disorder characterized by copper toxicity and associated symptoms such as liver disease, neurological problems, and psychiatric disturbances.
  • Identifying mutations in the ATP7B gene through this test can also help in determining the mode of inheritance, providing valuable information for genetic counseling and family planning.

Why is this test Wilson Disease (ATP7B) Gene Analysis Test taken?

  • Reason for Test: The Wilson Disease (ATP7B) Gene Analysis Test is taken to diagnose Wilson disease, a rare genetic disorder that causes copper to accumulate in the liver, brain, and other organs. This test helps in identifying mutations in the ATP7B gene, which is responsible for transporting copper out of the cells. Mutations in this gene can lead to copper buildup and cause various symptoms of Wilson disease.

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