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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 Harlequin Ichthyosis Gene Analysis Test is 10 days.

What are the prerequisites for the test Harlequin Ichthyosis Gene Analysis Test

  • Patients with suspected Harlequin Ichthyosis
  • Physician order
  • Specimen: Whole blood in a lavender top (EDTA) tube
  • Complete the test requisition form
  • Include patient demographic information
  • Include clinical history and indication for testing

What are the measure values for the test Harlequin Ichthyosis Gene Analysis Test

  1. Presence of mutations in ABCA12 gene
  2. Identification of specific mutations associated with Harlequin Ichthyosis
  3. Confirmation of diagnosis in affected individuals
  4. Carrier testing for at-risk family members

What does this test Harlequin Ichthyosis Gene Analysis Test identify?

Harlequin Ichthyosis Gene Analysis Test
The Harlequin Ichthyosis Gene Analysis Test is a genetic test that identifies mutations in the ABCA12 gene. Mutations in this gene are associated with the rare genetic disorder known as Harlequin Ichthyosis. This test is used to confirm a diagnosis of Harlequin Ichthyosis in individuals showing symptoms of the condition, such as severe thickening of the skin, scaling, and other skin abnormalities. Identifying mutations in the ABCA12 gene can help healthcare providers determine the appropriate treatment and management strategies for individuals with Harlequin Ichthyosis.

Why is this test Harlequin Ichthyosis Gene Analysis Test taken?

Harlequin Ichthyosis Gene Analysis Test

The Harlequin Ichthyosis Gene Analysis Test is taken to diagnose and confirm the presence of mutations in the ABCA12 gene, which is associated with the rare genetic skin disorder known as Harlequin ichthyosis.

This test is typically recommended for individuals who exhibit symptoms of Harlequin ichthyosis, such as thick, diamond-shaped plates of skin that severely restrict movement, respiratory difficulties, and potential complications with the eyes, ears, and other organs.

The test involves analyzing the DNA of the patient to identify any mutations in the ABCA12 gene, which plays a crucial role in the development of the skin's outermost layer. Detecting mutations in this gene can help healthcare providers make an accurate diagnosis and develop a tailored treatment plan for the affected individual.

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