LOINC Code 78382-9: CFTR gene targeted mutation analysis MS.MALDI-TOF Nom (Bld/Tiss)

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component CFTR gene targeted mutation analysis. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

• Used in lab systems, EHRs, and clinical data exchange.
• May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
• Status: ACTIVE
• Order vs observation: Observation
• Method: MS.MALDI-TOF

What it does not mean

• The code identifies the observation or test, not the actual result.

Key facts

• CFTR gene mutations found [Identifier] in Blood or Tissue by MS.MALDI-TOF Nominal
• CFTR gene targeted mutation analysis
• 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.
• 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; Identity or presence; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRP7; Mut; Mut Anl; Mutations; Nominal; Point in time; Random; Tissue; Tissue, unspecified; TNR-CFTR; WB; Whole blood; Whole blood or Tissue

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

Frequently asked questions