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Carney Complex
PRKAR1A (cAMP-dependent protein kinase type I-alpha regulatory subunit)
Carney Complex belongs to the group of multiple endocrine neoplasias. Pigmented skin lesions occur over the entire body, including lips, mucosal surfaces, and conjunctiva. Lesions can be brown-black, blue, or freckles (ephelides). Myxoid tumors may develop on any skin surface, including eyelids, as well as in the heart. Other features of Carney Complex include Cushing syndrome, acromegaly, breast fibroadenoma, thyroid lesions, schwannomas, and/or osteochondromyxomas.
Using genomic DNA obtained from buccal (cheek) swabs or blood (1-5cc in EDTA), all 10 exons of the PRKAR1A gene are tested using bi-directional sequence analysis. In more than 40% of cases of Carney Complex, mutations in the PRKAR1A gene can be identified. In adults presenting with Cushing disease and Primary Pigmented Nodular Adrenocortical Disease (PPNAD), the frequency of mutation in the PRKAR1A gene was found to be over 80%.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Myxoma, mixoma, Cushing, acromegaly, schwannoma, osteochondromyxomas, ephelides, NAME, LAMB
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