AutoICD API

54083-1

Laboratory

CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal

LOINC 6-Axis Classification

Component

CFTR gene targeted mutation analysis

Property

Prid

Time Aspect

Pt

System

Bld.dot

Scale Type

Nom

Method Type

Molgen

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

CFTR Mut Anl DBS

Display Name

CFTR gene targeted mutation analysis Molgen Nom (DBS)

Related Names

ABC35ABCC7BloodCBAVDCFCFACFTR/MRPCystic fibrosis transmembrane conductance regulatorcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)DBSdJ760C5.1Dried blood spotFilter paperFPGeneticsHeredityHeritableIdentity or presenceInheritedMolecular geneticsMolecular pathologyMOLPATHMOLPATH.MUTATIONSMRP7MutMut AnlMutationsNominalPCRPoint in timeRandomTNR-CFTRWBWhole blood

Frequently Asked Questions

What is LOINC code 54083-1?

LOINC code 54083-1 identifies "CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal". It measures CFTR gene targeted mutation analysis in Bld.dot.

What does 54083-1 measure?

This code measures CFTR gene targeted mutation analysis in Bld.dot. 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.