Forms and Documents
- An individual with a personal and family history of skin pigment abnormalities and/or tumors associated with Carney Complex such as lentigines, myxoma, primary pigmented nodular adrenocortical disease (PPNAD), psammomatous melanotic schwannomas (PMS), large-cell calcifying Sertoli cell tumors (LCCSCT) and other tumors
- An individual with multiple tumors associated with Carney Complex, particularly if at least one is early-onset
- An individual with a personal history of a rare tumor associated with Carney Complex such as cardiac myxoma, PPNAD, PMS, and other tumors
- An unaffected individual with a family history suggestive of Carney Complex (see above) when an affected individual is unavailable for his or her own genetic testing
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Groussin et al., Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and PPNAD reveals novel mutations and clue for pathophysiology: Augmented PKA signaling is associat
- Horvath et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006; 38(7):794-800
- Horvath et al., Large deletions of the PRKAR1A gene in Carney Complex. Clin Cancer Res. 2008; 14(2):388
- Casey, Maired et al., Mutations in the protein kinase A R1alpha regulartory subunit cause familial cardiac myxomas and Carney complex J of Clin Invest 106: R31-R38 (2000)
- Kirschner, Lawrence S et al., Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with Carney complex Nat Genet 26(1):89-92 (2000)