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Reports Within:

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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 Icthyosis Gene Panel test is 10 days.

What are the prerequisites for the test Icthyosis Gene Panel

  • Completed test requisition form
  • Copy of the patient’s insurance card (front and back)
  • Copy of the patient’s photo ID
  • Signed informed consent form
  • Family history questionnaire (if applicable)

What are the measure values for the test Icthyosis Gene Panel

  • Deletion/duplication analysis: Sensitivity of the test is approximately 99% for single nucleotide variants and small insertions/deletions. Detection rate for large deletions and duplications is approximately 80%.
  • Sequence analysis: Coverage of the test is approximately 99.9% for single nucleotide variants and small insertions/deletions.
  • Variant interpretation: Variants are classified as pathogenic, likely pathogenic, uncertain significance, likely benign, or benign based on ACMG guidelines.
  • Reporting time: Results are typically available within 3-4 weeks from receipt of the sample.

What does this test Icthyosis Gene Panel identify?

  • Ichthyosis Gene Panel is a genetic test that identifies mutations in genes associated with various forms of ichthyosis, a group of skin disorders characterized by dry, scaly skin.
  • The panel includes genes such as ABCA12, TGM1, NIPAL4, ALOXE3, and others that are known to be involved in the development of different types of ichthyosis.
  • Identifying mutations in these genes can help in confirming a diagnosis of ichthyosis, determining the specific subtype of ichthyosis, and guiding treatment and management decisions.
  • This test can be useful for individuals with suspected ichthyosis, as well as for family members who may be at risk of inheriting the condition.

Why is this test Icthyosis Gene Panel taken?

Ichthyosis Gene Panel test is taken to diagnose and identify genetic mutations associated with ichthyosis, a group of skin disorders characterized by dry, thickened, and scaly skin. This test helps in determining the specific gene mutations responsible for the condition, which can aid in personalized treatment and management strategies for individuals with ichthyosis.

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