21655-6

LOINC 2.82

CFTR gene.p.Phe508del [Presence] in Blood or Tissue by Molecular genetics method

CFTR p.F508del Bld/T Ql

Component

  • CFTR gene.p.Phe508del

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • ABC35; ABCC7; Blood; CBAVD; CF; CFA; CFTR p.F508del; 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; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRP7; Ordinal; P prime; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; TNR-CFTR; WB; Whole blood; Whole blood or Tissue

Index terms

  • ABC35
  • ABCC7
  • Blood
  • CBAVD
  • CF
  • CFA
  • CFTR p.F508del
  • 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
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MRP7
  • Ordinal
  • P prime
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Tissue
  • Tissue, unspecified
  • TNR-CFTR
  • WB
  • Whole blood
  • Whole blood or Tissue