78382-9
LaboratoryCFTR gene mutations found [Identifier] in Blood or Tissue by MS.MALDI-TOF Nominal
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.
LOINC 6-Axis Classification
Component
CFTR gene targeted mutation analysis
Property
Prid
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
MS.MALDI-TOF
Details
Class
MOLPATH.MUT
Order/Observation
Observation
Short Name
CFTR Mut Anl Bld/T MS.MALDI-TOF Nom
Display Name
CFTR gene targeted mutation analysis MS.MALDI-TOF Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 78382-9?
LOINC code 78382-9 identifies "CFTR gene mutations found [Identifier] in Blood or Tissue by MS.MALDI-TOF Nominal". 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.
What does 78382-9 measure?
This code measures CFTR gene targeted mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.