CFTR gene targeted mutation analysis:Imp:Pt:Bld/Tiss:Ord:MS.MALDI-TOF

Preferred Label : CFTR gene targeted mutation analysis:Imp:Pt:Bld/Tiss:Ord:MS.MALDI-TOF;

LOINC status : ACTIVE;

LOINC display name : CFTR gene targeted mutation analysis MS.MALDI-TOF Ql (Bld/Tiss) [Interp];

LOINC long common name : CFTR gene mutation analysis [interpretation] in Blood or Tissue Qualitative by MS.MALDI;

LOINC short name : CFTR Mut Anl Bld/T MS.MALDI-Imp;

LOINC description : 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.;

Details

Origin ID

77017-2;

UMLS CUI

C4037267;

Has component
- CFTR gene [LOINC component]
- CFTR gene targeted mutation analysis [LOINC component]
- Gene [LOINC component]
Has method
- MS.MALDI [LOINC method]
- MS.MALDI-TOF [LOINC method]
Has property
- Impression/interpretation of study [LOINC Property]
Has scale
- Ord [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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