77017-2LOINC 2.82
CFTR gene mutation analysis [interpretation] in Blood or Tissue Qualitative by MS.MALDI
CFTR Mut Anl Bld/T MS.MALDI-Imp
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
- Imp
Scale
- Ord
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; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpretation; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRP7; Mut; Mut Anl; Mutations; Ordinal; Point in time; 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 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
- Impression
- Impression/interpretation of study
- Impressions
- Inherited
- Interp
- Interpretation
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- MRP7
- Mut
- Mut Anl
- Mutations
- Ordinal
- Point in time
- QL
- Qual
- Qualitative
- Random
- Screen
- Tissue
- Tissue, unspecified
- TNR-CFTR
- WB
- Whole blood
- Whole blood or Tissue