PRKAR1A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

PRKAR1A Del+Dup + Full Mut Anl Bld/T

Definition

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]

ACRDYS1; ADOHR; Amplification; Blood; CAR; CNC; CNC1; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PKR1; Point in time; PPNAD1; PRKAR1; protein kinase cAMP-dependent type I regulatory subunit alpha; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; TSE1; WB; Whole blood; Whole blood or Tissue

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