Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

PRKAR1A Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PRKAR1A
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • M884: Carney Complex (Myxomatous tumors)
* For price inquiries please email zebras@genedx.com

REFERENCES

  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 associated with adrenal tumorigenesis in PPNAD. Am J Hum Genet 71:1433-1442 (2002)
  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)

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