LOINC long common name : BTK gene mutation analysis limited to known familial mutations in Blood or Tissue
by Molecular genetics method;
LOINC short name : BTK gene Fam Mut Anl Bld/T;
LOINC description : 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.;