Hereditary antithrombin (AT3) deficiency

EDTA Blood, 4-8 ml

Notes: A signed informed consent form for genetic testing and prior approval for cost coverage are required.

Gene list: SERPINC1

The gene panels are not fixed and can be adapted upon request according to the clinical indication (see test request profile 21713).

Hereditary antithrombin deficiency is a rare inherited blood clotting disorder associated with a significantly increased risk of venous thrombosis. Antithrombin is a natural anticoagulant that primarily inactivates thrombin and coagulation factors Xa and IXa. Reduced levels or impaired function of antithrombin can lead to an increased tendency to form blood clots (thrombophilia).

Clinical manifestations vary, ranging from an absence of symptoms to recurrent thromboembolic events. Two types are distinguished based on laboratory findings: type I (reduced antithrombin activity and concentration) and type II (reduced antithrombin activity with a normal antithrombin concentration).

Hereditary antithrombin deficiency is caused by pathogenic variants in the SERPINC1 gene. For genetic testing, the SERPINC1 gene is analysed using next-generation sequencing (NGS). In addition, multiplex ligation-dependent probe amplification (MLPA) is performed to detect larger deletions and duplications.