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

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

  • Patient must have symptoms of Menkes disease or a family history of the condition
  • Physician's order for the test
  • Samples required for testing: blood samples or DNA samples
  • Consent form signed by the patient or legal guardian

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

Test Name:
Menkes Disease Gene Analysis Test
Measure Values:
  • Copper Level: Normal range: 70-140 µg/dL
  • Ceruloplasmin Level: Normal range: 20-60 mg/dL
  • Mutations in ATP7A Gene: Detected/Not Detected

What does this test Menkes Disease Gene Analysis Test identify?

  • The Menkes Disease Gene Analysis Test identifies mutations in the ATP7A gene, which is responsible for encoding a protein involved in copper transport and metabolism.
  • Menkes Disease is a rare genetic disorder that affects copper levels in the body, leading to copper deficiency and resulting in various symptoms including developmental delays, seizures, and brittle hair.
  • By identifying mutations in the ATP7A gene, this test can confirm a diagnosis of Menkes Disease and help guide treatment and management options for affected individuals.

Why is this test Menkes Disease Gene Analysis Test taken?

The Menkes Disease Gene Analysis Test is taken to diagnose Menkes disease, a rare genetic disorder that affects copper levels in the body. This test is used to identify mutations in the ATP7A gene, which is responsible for transporting copper within the body. Individuals with Menkes disease have mutations in this gene, leading to copper deficiency and a range of symptoms including developmental delays, seizures, and brittle hair.

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