AutoICD API

69480-2

Laboratory

CFTR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA

Definition

This term is used for testing the presence of large genomic duplications and deletions within the CFTR gene. Full CFTR gene analysis combined with deletion/duplication anaylsis identify over 95% of the known genetic mutations.

LOINC 6-Axis Classification

Component

CFTR gene deletion+duplication

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

MLPA

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

CFTR Del+Dup Bld/T MLPA

Display Name

CFTR gene del and dup mutation analysis MLPA Doc (Bld/Tiss)

Related Names

ABC35ABCC7AmplificationBloodCBAVDCFCFACFTR/MRPCystic fibrosis transmembrane conductance regulatorcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)DelDel+DupDeletionsdJ760C5.1DocumentDpFindingFindingsGeneticsHeredityHeritableInheritedMolecular pathologyMOLPATHMOLPATH.MUTATIONSMRP7Point in timeRandomTissueTissue, unspecifiedTNR-CFTRWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 69480-2?

LOINC code 69480-2 identifies "CFTR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA". This term is used for testing the presence of large genomic duplications and deletions within the CFTR gene. Full CFTR gene analysis combined with deletion/duplication anaylsis identify over 95% of the known genetic mutations.

What does 69480-2 measure?

This code measures CFTR gene deletion+duplication in Bld/Tiss. It belongs to the MOLPATH.MUT 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.