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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 test Hereditary Spherocytosis Gene Panel is 21 days.

What are the prerequisites for the test Hereditary Spherocytosis Gene Panel

  • Medical history and physical examination showing symptoms of hereditary spherocytosis
  • Family history of hereditary spherocytosis or related conditions
  • Complete blood count (CBC) showing signs of hemolysis and anemia
  • Peripheral blood smear showing spherocytes
  • Direct antiglobulin test (Coombs test) showing a negative result
  • No recent blood transfusions within the past 3 months

What are the measure values for the test Hereditary Spherocytosis Gene Panel

  • Hereditary Spherocytosis Gene Panel Test Measures:
    • ANK1 Gene Mutation Analysis
    • SPTA1 Gene Mutation Analysis
    • SPTB Gene Mutation Analysis
    • SLC4A1 Gene Mutation Analysis
    • EPB42 Gene Mutation Analysis
    • SLC2A1 Gene Mutation Analysis

What does this test Hereditary Spherocytosis Gene Panel identify?

  • Test Name: Hereditary Spherocytosis Gene Panel
  • Identification: This test identifies mutations in genes associated with hereditary spherocytosis, a genetic disorder characterized by abnormally shaped red blood cells (spherocytes). These mutations can lead to hemolytic anemia, jaundice, and an enlarged spleen.
  • Genes Tested: The panel typically includes genes such as ANK1, SPTB, SLC4A1, and EPB42, which are known to be involved in the pathogenesis of hereditary spherocytosis.
  • Testing Method: The test is usually performed using next-generation sequencing (NGS) technology to analyze the entire coding regions of the genes included in the panel.
  • Clinical Utility: Identifying mutations in these genes can help confirm a diagnosis of hereditary spherocytosis, guide treatment decisions, and provide valuable information for genetic counseling and family planning.

Why is this test Hereditary Spherocytosis Gene Panel taken?

Hereditary Spherocytosis Gene Panel is taken to diagnose and confirm the presence of mutations in genes associated with hereditary spherocytosis. Hereditary spherocytosis is a genetic disorder that affects the red blood cells, causing them to be spherical in shape rather than the normal disc shape. This can lead to symptoms such as anemia, jaundice, and an enlarged spleen.

The gene panel test specifically looks for mutations in genes such as ANK1, SPTA1, SPTB, and others that are known to be associated with hereditary spherocytosis. By identifying these mutations, healthcare providers can make an accurate diagnosis and provide appropriate treatment and management for the condition.

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