69479-4LOINC 2.82
BTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
BTK gene Fam Mut Anl Bld/T
Definition
- 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.
Component
- BTK gene mutation analysis limited to known familial mutations
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- 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
Index terms
- 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