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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 Beta Thalassemia Mutation Detection Test - Blood (5 Common Mutations) is 14 days.

What are the prerequisites for the test Beta Thalassemia Mutation Detection Test - Blood (5 Common Mutations)

  • Patient must not have received a blood transfusion in the past month
  • Patient must not have taken any iron supplements or medications containing iron within the past month
  • Patient must not have undergone any recent bone marrow transplant
  • Patient must not have any active infections or illnesses at the time of the test
  • Patient must have a signed consent form from a healthcare provider

What are the measure values for the test Beta Thalassemia Mutation Detection Test - Blood (5 Common Mutations)

  • HBB c.118C>T (or Beta 0 IVS1-1)
  • HBB c.93-21G>A (or Beta + IVS1-1)
  • HBB c.92+6T>C (or Beta + IVS1-6)
  • HBB c.126_129delCTTT (or Beta 0 IVS1-6)
  • HBB c.27_28insG (or Beta + IVS1-5)

What does this test Beta Thalassemia Mutation Detection Test - Blood (5 Common Mutations) identify?

Beta Thalassemia Mutation Detection Test - Blood

This test identifies mutations in the beta globin gene that can lead to beta thalassemia, a genetic blood disorder. Beta thalassemia is characterized by reduced production of hemoglobin, which can result in anemia and other complications.

The test specifically looks for 5 common mutations in the beta globin gene that are associated with beta thalassemia. These mutations include:

  • IVS1-110 (G>A)
  • Cd 39 (C>T)
  • Cd 8/9 (+G)
  • Cd 41/42 (-TTCT)
  • IVS1-1 (G>T)

Identifying these mutations can help in diagnosing beta thalassemia and determining the appropriate treatment and management for individuals with the disorder.

Why is this test Beta Thalassemia Mutation Detection Test - Blood (5 Common Mutations) taken?

The Beta Thalassemia Mutation Detection Test - Blood (5 Common Mutations) is taken to identify specific genetic mutations associated with Beta Thalassemia, a genetic disorder that affects the production of hemoglobin in the blood. This test is important for individuals who have a family history of Beta Thalassemia or who exhibit symptoms of the condition, such as anemia, fatigue, and abnormal red blood cell counts.

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