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CARNEY COMPLEX

Clinical Genetics Endocrinology Genomics


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).

NHSE test directory code: R156 Carney complex. Testing criteria can be found here.

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

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