LOINC Code 69480-2: CFTR gene del and dup mutation analysis MLPA Doc (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 deletion+duplication. 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: Both
• Method: MLPA

What it does not mean

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

Key facts

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

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