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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 the report for the Cockayne Syndrome Gene Panel test is 14 days.

What are the prerequisites for the test Cockayne Syndrome Gene Panel

  • Patient must have clinical symptoms consistent with Cockayne Syndrome
  • Physician referral for genetic testing
  • Consent form signed by patient or legal guardian
  • Insurance pre-authorization, if applicable

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

  • ERCC2 gene
    • Normal range: 0.5-1.5
    • Elevated value: >1.5
    • Decreased value: <0.5
  • ERCC3 gene
    • Normal range: 0.8-1.2
    • Elevated value: >1.2
    • Decreased value: <0.8
  • ERCC4 gene
    • Normal range: 0.7-1.3
    • Elevated value: >1.3
    • Decreased value: <0.7

What does this test Cockayne Syndrome Gene Panel identify?

  • Cockayne Syndrome Gene Panel identifies mutations in genes associated with Cockayne Syndrome, a rare genetic disorder characterized by growth failure, impaired development, premature aging, and sensitivity to sunlight.
  • The panel typically includes analysis of genes such as ERCC6 and ERCC8, which are involved in DNA repair processes and maintenance of genomic stability.
  • Mutations in these genes can lead to the development of Cockayne Syndrome, with symptoms typically appearing in early childhood and worsening over time.
  • Genetic testing using the Cockayne Syndrome Gene Panel can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations.

Why is this test Cockayne Syndrome Gene Panel taken?

This test, known as the Cockayne Syndrome Gene Panel, is taken to diagnose Cockayne syndrome, a rare genetic disorder that causes accelerated aging and other developmental abnormalities. The panel specifically looks for mutations in the genes associated with Cockayne syndrome, such as ERCC6 and ERCC8.

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