AutoICD API

94214-4

Laboratory

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

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]

LOINC 6-Axis Classification

Component

PRKAR1A gene deletion+duplication & full mutation analysis

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Molgen

Details

Class

MOLPATH

Order/Observation

Both

Short Name

PRKAR1A Del+Dup + Full Mut Anl Bld/T

Display Name

PRKAR1A gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)

Related Names

ACRDYS1ADOHRAmplificationBloodCARCNCCNC1DelDel+DupDel+Dup + Full Mut AnlDeletionsDocumentDpFindingFindingsfull gene sequencingFull Mut AnlGeneticsHeredityHeritableInheritedMolecular geneticsMolecular pathologyMOLPATHMutMutationsPCRPKR1Point in timePPNAD1PRKAR1protein kinase cAMP-dependent type I regulatory subunit alphaRandomsequencing of entire coding regionTissueTissue, unspecifiedTSE1WBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 94214-4?

LOINC code 94214-4 identifies "PRKAR1A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". 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]

What does 94214-4 measure?

This code measures PRKAR1A gene deletion+duplication & full mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.

What is LOINC?

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.