Congenital afibrinogenemia gene panel

Congenital Afibrinogenemia Gene Panel

What is Congenital Afibrinogenemia?

Congenital Afibrinogenemia is a rare inherited bleeding disorder where the body is unable to produce enough fibrinogen — an essential protein needed for blood clot formation. Individuals with this condition may experience excessive bleeding, delayed wound healing, easy bruising, nosebleeds, gum bleeding, or bleeding after surgery or trauma.

Why is this Gene Panel Done?

This genetic test helps identify mutations associated with inherited fibrinogen disorders. It is useful for:

• Diagnosing congenital afibrinogenemia or hypofibrinogenemia
• Identifying hereditary bleeding disorders
• Family screening and carrier detection
• Genetic counseling and prenatal risk assessment
• Supporting treatment planning and long-term management

Genes Commonly Analyzed

The panel primarily evaluates mutations in:

• FGA
• FGB
• FGG

These genes are responsible for fibrinogen production and function.

Recommended For

This test may be advised for individuals with:

• Unexplained recurrent bleeding episodes
• Prolonged clotting time
• Family history of bleeding disorders
• Neonatal bleeding complications
• Excessive bleeding after surgery or dental procedures

Sample Required

• Peripheral Blood Sample

Technology Used

• Next Generation Sequencing (NGS)

Benefits of Testing

• Accurate molecular diagnosis
• Early detection of inherited conditions
• Better clinical management
• Helps assess genetic risk in family members

Turnaround Time

• Typically 2–4 weeks depending on laboratory workflow.

Important Note

Genetic counseling is recommended before and after testing for proper interpretation of results and family risk evaluation.