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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 test Rett Syndrome Gene Panel is 21 days.

What are the prerequisites for the test Rett Syndrome Gene Panel

  • Test Requisition Form
  • Copy of insurance card (front and back)
  • Patient's demographic information
  • Clinical notes or summary
  • Family history information
  • Consent form signed by the patient or legal guardian

What are the measure values for the test Rett Syndrome Gene Panel

  • MECP2
    • Normal: 0-2 copies
    • Variant of Uncertain Significance: 3 copies
    • Pathogenic: >4 copies
  • CDKL5
    • Normal: 0-2 copies
    • Variant of Uncertain Significance: 3 copies
    • Pathogenic: >4 copies
  • FOXG1
    • Normal: 0-2 copies
    • Variant of Uncertain Significance: 3 copies
    • Pathogenic: >4 copies

What does this test Rett Syndrome Gene Panel identify?

The Rett Syndrome Gene Panel identifies mutations in the genes associated with Rett Syndrome. These genes include:

  • MECP2
  • CDKL5
  • FOXG1
  • SCN1A

Why is this test Rett Syndrome Gene Panel taken?

The test for Rett Syndrome Gene Panel is taken to diagnose Rett syndrome, a rare genetic disorder that affects brain development in girls. This syndrome is caused by mutations in the MECP2 gene, which is responsible for producing a protein that plays a crucial role in brain function. The test helps in identifying mutations in the MECP2 gene, which can confirm the diagnosis of Rett syndrome.

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