PRKAR1A Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • 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
  • Capillary Sequencing
  • Exon Array CGH


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse


* For price inquiries please email


  1. 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
  2. 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
  3. Horvath et al., Large deletions of the PRKAR1A gene in Carney Complex. Clin Cancer Res. 2008; 14(2):388
  4. 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)
  5. 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)