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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 test Congenital Afibrinogenemia Gene Panel is 21 days.

What are the prerequisites for the test Congenital Afibrinogenemia Gene Panel

  • Patients must have a clinical diagnosis of congenital afibrinogenemia
  • A referral from a healthcare provider is required
  • Patient consent for genetic testing must be obtained
  • Patient must not have received a bone marrow transplant

What are the measure values for the test Congenital Afibrinogenemia Gene Panel

  • Factor I (Fibrinogen) gene mutation analysis
  • Sequencing of all coding exons and intron-exon boundaries
  • Deletion/duplication analysis

What does this test Congenital Afibrinogenemia Gene Panel identify?

Congenital Afibrinogenemia Gene Panel Identification

This test identifies mutations in the genes associated with congenital afibrinogenemia, a rare inherited bleeding disorder characterized by a lack of fibrinogen in the blood. The panel includes analysis of specific genes such as FGA, FGB, and FGG which encode for the three subunits of fibrinogen. Identifying mutations in these genes can help confirm a diagnosis of congenital afibrinogenemia and guide treatment and management decisions for affected individuals.

Why is this test Congenital Afibrinogenemia Gene Panel taken?

This test is taken to diagnose Congenital Afibrinogenemia, a rare inherited bleeding disorder characterized by the absence or severe deficiency of fibrinogen in the blood. Fibrinogen is a protein that helps in blood clotting, and its deficiency can lead to excessive bleeding and bruising.

The Congenital Afibrinogenemia Gene Panel test helps in identifying mutations in specific genes that are known to cause this disorder. This information is crucial for genetic counseling, determining the best treatment approach, and predicting the risk of bleeding complications.

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