AutoICD API

50998-4

Laboratory

CFTR gene mutations tested for [#] in Blood or Tissue by Molecular genetics method

Definition

Number of mutations analyzed in Cystic Fibrosis genetic testing.

LOINC 6-Axis Classification

Component

CFTR gene mutations tested for

Property

Num

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Qn

Method Type

Molgen

Details

Class

MOLPATH.MUT

Order/Observation

Observation

Short Name

Num CFTR Mut Tested Bld/T

Display Name

CFTR gene mutations tested for Molgen (Bld/Tiss) [#]

Related Names

ABC35ABCC7BloodCBAVDCFCFACFTR/MRPCntCountCystic fibrosis transmembrane conductance regulatorcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)dJ760C5.1Gene mut testedGeneticsHeredityHeritableInheritedMolecular geneticsMolecular pathologyMOLPATHMOLPATH.MUTATIONSMRP7MutMut TestedMutationMutsNumberPCRPoint in timeQNTQuanQuantQuantitativeRandomTissueTissue, unspecifiedTNR-CFTRWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 50998-4?

LOINC code 50998-4 identifies "CFTR gene mutations tested for [#] in Blood or Tissue by Molecular genetics method". Number of mutations analyzed in Cystic Fibrosis genetic testing.

What does 50998-4 measure?

This code measures CFTR gene mutations tested for 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.