LOINC Code 94241-7: BTK gene full mutation analysis Sequencing 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 full 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: Both
• Method: Sequencing

What it does not mean

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

Key facts

• BTK gene full mutation analysis in Blood or Tissue by Sequencing
• BTK gene full mutation analysis
• Full gene sequence analysis of the BTK gene to identify a pathogenic mutations and confirm a diagnosis of X-linked agammaglobulinemia (XLA) in male patients with a clinical history and laboratory findings (e.g. recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, and with or without abnormal Bruton tyrosine kinase (Btk) protein expression by flow cytometry). For female relatives of male XLA patients who do not demonstrate carrier phenotype by Btk flow cytometry, this test may also be performed.
• 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; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; IMD1; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; PSCTK1; Random; sequencing of entire coding region; 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