AutoICD API

94241-7

Laboratory

BTK gene full mutation analysis in Blood or Tissue by Sequencing

Definition

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.

LOINC 6-Axis Classification

Component

BTK gene full mutation analysis

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Sequencing

Details

Class

MOLPATH

Order/Observation

Both

Short Name

BTK gene Full Mut Anl Bld/T Seq

Display Name

BTK gene full mutation analysis Sequencing Doc (Bld/Tiss)

Related Names

Agammaglobulinaemia tyrosine kinase geneAGMX1ATATKB cell progenitor kinase geneBloodBPKBruton agammaglobulinemia tyrosine kinaseBruton agammaglobulinemia tyrosine kinase geneBruton's tyrosine kinase geneDocumentFindingFindingsfull gene sequencingFull Mut AnlGeneticsHeredityHeritablehigh-throughput sequencingHTSIMD1InheritedMolecular pathologyMOLPATHMutMutationsNext generation sequencingNGSPoint in timePSCTK1Randomsequencing of entire coding regionTissueTissue, unspecifiedTyrosine-protein kinase geneWBWhole bloodWhole blood or TissueXLA

Frequently Asked Questions

What is LOINC code 94241-7?

LOINC code 94241-7 identifies "BTK gene full mutation analysis in Blood or Tissue by Sequencing". 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.

What does 94241-7 measure?

This code measures BTK gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH 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.