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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 for Report: 21 days

Test Name: Epidermolysis Bullosa Gene Panel

What are the prerequisites for the test Epidermolysis Bullosa Gene Panel

  • Patients with suspected epidermolysis bullosa (EB)
  • Patients with clinical features suggestive of EB
  • Patients with a family history of EB
  • Patients with a known mutation in a specific gene associated with EB

What are the measure values for the test Epidermolysis Bullosa Gene Panel

Gene Measure Value
COL7A1 Copy Number Variation
ITGA6 Sequence Analysis
ITGB4 Sequence Analysis
KRT5 Sequence Analysis
KRT14 Sequence Analysis

What does this test Epidermolysis Bullosa Gene Panel identify?

  • Epidermolysis Bullosa Gene Panel identifies mutations in specific genes associated with Epidermolysis Bullosa, a group of rare genetic disorders characterized by fragile skin that blisters and breaks easily.
  • The panel typically includes genes such as COL7A1, COL17A1, ITGB4, ITGA6, and others that are known to be involved in the formation and integrity of the skin.
  • Identifying mutations in these genes can help with the diagnosis of Epidermolysis Bullosa, determine the specific subtype of the condition, and guide treatment and management decisions.

Why is this test Epidermolysis Bullosa Gene Panel taken?

Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by blistering and skin fragility. The Epidermolysis Bullosa Gene Panel test is taken to identify mutations in specific genes that are known to cause EB. This test helps in confirming a diagnosis of EB, determining the specific subtype of EB, and guiding treatment decisions.

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