Hereditary protein C 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: PROC

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

Hereditary protein C deficiency is a rare inherited blood clotting disorder associated with an increased risk of venous thrombosis. Reduced levels or impaired function of protein C 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 protein C activity and concentration) and type II (reduced protein C activity with a normal protein C concentration).

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