Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies

Use

This test is useful for evaluating protein C deficiency in patients with a personal or family history suggestive of hereditary thrombophilia. It confirms a diagnosis of autosomal dominant protein C deficiency through identification of disease-causing alterations in the PROC gene. The test also aids in confirming autosomal recessive severe protein C deficiency if homozygous or compound heterozygous disease-causing variants are identified. It assists in determining the disease-causing alterations in the PROC gene to delineate the underlying molecular defect for protein C deficiency diagnosis, prognosis, and risk assessment based on genotype-phenotype correlations.