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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 for obtaining the report for the Diamond Blackfan Anemia Gene Panel test is 21 days.

What are the prerequisites for the test Diamond Blackfan Anemia Gene Panel

  • Patient must have a suspected or confirmed diagnosis of Diamond Blackfan Anemia
  • Physician's order
  • Specimen: Whole blood in a lavender-top (EDTA) tube
  • Minimum volume: 3 mL
  • Transport the specimen at room temperature
  • Include patient's name, date of birth, and collection date on the tube

What are the measure values for the test Diamond Blackfan Anemia Gene Panel

Gene Measure Value
RPS19 Normal: 0-0.8 copies
RPS17 Normal: 0-0.7 copies
RPS24 Normal: 0-0.8 copies
RPL5 Normal: 0-0.8 copies

What does this test Diamond Blackfan Anemia Gene Panel identify?

  1. This test identifies mutations in genes associated with Diamond Blackfan Anemia (DBA), a rare genetic disorder characterized by a failure of the bone marrow to produce red blood cells.
  2. The panel includes analysis of genes such as RPS19, RPS24, RPS17, RPL5, RPL11, and other ribosomal protein genes that are commonly mutated in DBA.
  3. Identification of mutations in these genes can help confirm a diagnosis of DBA, guide treatment decisions, and provide information about the risk of passing the condition on to future generations.

Why is this test Diamond Blackfan Anemia Gene Panel taken?

The Diamond Blackfan Anemia Gene Panel test is taken to diagnose Diamond Blackfan Anemia (DBA), a rare inherited bone marrow failure syndrome characterized by a failure of the bone marrow to produce red blood cells. The test is used to identify mutations in specific genes known to be associated with DBA, such as RPL5, RPL11, RPS7, and RPS19.

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