78382-9

LOINC 2.82

CFTR gene mutations found [Identifier] in Blood or Tissue by MS.MALDI-TOF Nominal

CFTR Mut Anl Bld/T MS.MALDI-TOF Nom

Definition

  • This term was created for, but is not limited in use to, Sequenom Laboratories' HerediT Cystic fibrosis mutation carrier test, which uses matrix-assisted laser desorption/ionization (MALDI) mass spectrometry to detect 136 mutations and 5 variants that are known to be clinically significant.

Component

  • CFTR gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Prid

Scale

  • Nom

Method

  • MS.MALDI-TOF

Related names

  • ABC35; ABCC7; Blood; CBAVD; CF; CFA; CFTR/MRP; Cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); dJ760C5.1; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRP7; Mut; Mut Anl; Mutations; Nominal; Point in time; Random; Tissue; Tissue, unspecified; TNR-CFTR; WB; Whole blood; Whole blood or Tissue

Index terms

  • ABC35
  • ABCC7
  • Blood
  • CBAVD
  • CF
  • CFA
  • CFTR gene targeted mutation analysis
  • CFTR/MRP
  • Cystic fibrosis transmembrane conductance regulator
  • cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
  • dJ760C5.1
  • Genetics
  • Heredity
  • Heritable
  • Identity or presence
  • Inherited
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MRP7
  • Mut
  • Mut Anl
  • Mutations
  • Nominal
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • TNR-CFTR
  • WB
  • Whole blood
  • Whole blood or Tissue