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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

Maximum days to obtain the report for Congenital Dyserythropoietic Anemia (CDA) Gene Panel:

The maximum days to obtain the report for the test Congenital Dyserythropoietic Anemia (CDA) Gene Panel is 14 days.

What are the prerequisites for the test Congenital Dyserythropoietic Anemia (CDA) Gene Panel

  • Completed Test Requisition Form
  • Copy of insurance card (if applicable)
  • Patient’s consent form signed by the patient or legal guardian
  • Complete clinical history of the patient
  • Specimen requirements:
    • Minimum of 3 mL of whole blood in a lavender top (EDTA) tube
    • Specimen should be shipped overnight at room temperature

What are the measure values for the test Congenital Dyserythropoietic Anemia (CDA) Gene Panel

  • Gene Panel: Congenital Dyserythropoietic Anemia (CDA) Gene Panel
  • Measure Values:
    • CDAN1 (codon 11): c.33C>A (p.Tyr11Ter)
    • CDAN1 (codon 17): c.49G>A (p.Trp17Ter)
    • CDAN1 (codon 19): c.57_58delAG (p.Arg20fs)
    • CDAN1 (codon 21): c.63G>A (p.Trp21Ter)
    • CDAN1 (codon 25): c.75C>A (p.Tyr25Ter)
    • CDAN1 (codon 29): c.87C>A (p.Tyr29Ter)
    • CDAN1 (codon 31): c.93C>A (p.Tyr31Ter)
    • CDAN1 (codon 33): c.99C>A (p.Tyr33Ter)
    • CDAN1 (codon 37): c.111C>A (p.Tyr37Ter)
    • CDAN1 (codon 40): c.120C>A (p.Tyr40Ter)

What does this test Congenital Dyserythropoietic Anemia (CDA) Gene Panel identify?

  • This test identifies mutations in genes associated with Congenital Dyserythropoietic Anemia (CDA).
  • It helps in diagnosing CDA, a rare inherited blood disorder characterized by ineffective erythropoiesis and abnormal red blood cell morphology.
  • The gene panel includes analysis of genes such as CDAN1, SEC23B, and KLF1 that are known to be involved in the pathogenesis of CDA.
  • Identification of mutations in these genes can aid in confirming a diagnosis of CDA and guiding appropriate management and treatment decisions.

Why is this test Congenital Dyserythropoietic Anemia (CDA) Gene Panel taken?

The Congenital Dyserythropoietic Anemia (CDA) Gene Panel test is taken to diagnose and determine the specific genetic mutations that may be causing CDA in an individual. CDA is a group of rare inherited blood disorders characterized by ineffective production of red blood cells, leading to anemia. This test helps identify mutations in genes known to be associated with CDA, such as CDAN1, SEC23B, KLF1, and GATA1.

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