LOINC display name : PRKAR1A gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : PRKAR1A gene deletion duplication and full mutation analysis in Blood or Tissue by
Molecular genetics method;
LOINC short name : PRKAR1A Del Dup Full Mut Anl Bld/T;
LOINC description : Full gene sequence analysis is performed to detect the presence of a mutation in all
coding regions and intron/exon boundaries of the PRKAR1A gene. In addition, deletion/duplication
analysis, such as by array comparative genomic hybridization (aCGH) or quantitative
PCR (qPCR), is used to test for the presence of large deletions or duplications. This
test is used to aid in the diagnosis of Carney complex (CNC) and suspected acrodysostosis-1
with hormone resistance.[GHR gene: PRKAR1A];
Has component