LOINC Code 69479-4: BTK gene familial mut analysis Molgen 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 BTK gene mutation analysis limited to known familial mutations. 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: Molgen

What it does not mean

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

Key facts

• BTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
• BTK gene mutation analysis limited to known familial mutations
• This term is used for confirming a diagnosis of X-linked agammaglobulinemia (XLA) in males and identifying carrier females in families where a BTK mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation.
• Agammaglobulinaemia tyrosine kinase gene; AGMX1; AT; ATK; B cell progenitor kinase gene; Blood; BPK; Bruton agammaglobulinemia tyrosine kinase; Bruton agammaglobulinemia tyrosine kinase gene; Bruton's tyrosine kinase gene; Document; Fam Mut Anl; Finding; Findings; Genetics; Heredity; Heritable; IMD1; Inherited; LMTED; LTD; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Mutations; Muts; PCR; Point in time; PSCTK1; Random; Tissue; Tissue, unspecified; Tyrosine-protein kinase gene; WB; Whole blood; Whole blood or Tissue; XLA

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