69480-2

LOINC 2.82

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

CFTR Del+Dup Bld/T 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.

Component

  • CFTR gene deletion+duplication

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • MLPA

Related names

  • ABC35; ABCC7; Amplification; Blood; CBAVD; CF; CFA; CFTR/MRP; Cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); Del; Del+Dup; Deletions; dJ760C5.1; Document; Dp; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRP7; Point in time; Random; Tissue; Tissue, unspecified; TNR-CFTR; WB; Whole blood; Whole blood or Tissue

Index terms

  • ABC35
  • ABCC7
  • Amplification
  • Blood
  • CBAVD
  • CF
  • CFA
  • CFTR gene deletion+duplication
  • CFTR/MRP
  • Cystic fibrosis transmembrane conductance regulator
  • cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
  • Del
  • Del+Dup
  • Deletions
  • dJ760C5.1
  • Document
  • Dp
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MRP7
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • TNR-CFTR
  • WB
  • Whole blood
  • Whole blood or Tissue