CARNEY COMPLEX

PRKAR1A GENE ANALYSIS IN CARNEY COMPLEX

Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumours, as well as a variety of pigmented lesions of the skin and mucosae. Disease-causing variants in the PRKAR1A gene are found in approximately 60% of patients with a diagnosis of Carney Complex (Horvath et al. 2010 Human Mutation 31:369-379).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.