Analysis of the PROC gene by PCR amplification and sequencing of the coding region, splice junctions and promoter region. Dosage analysis, via MLPA, is available as a second line test where gross deletions/ insertions are suspected.
Protein C is one of the body's natural anticoagulants and its deficiency leads to an increased risk of thrombophilia. Most affected individuals are heterozygous and have mild Protein C deficiency (autosomal dominant) - approximately 1:200-500 individuals. The absolute risk of thrombosis is variable and affected by other genetic e.g. Factor V Leiden and / or environmental e.g. surgery risk factors. True autosomal recessive Protein C deficiency is very rare, <1:1000000, and results in life-threatening neonatal purpura fulminans.
Mutations are heterogeneous and can cause Type I Quantitative (most common) or Type II Qualitative defects.
Protein C deficiency can be difficult to diagnose in the immediate aftermath of a thrombotic event or if a patient is on anticoagulant therapy. Molecular analysis can provide a definitive diagnosis and allow family studies.
Synonyms or keywords:
Protein C deficiency