LOINC display name : AGXT gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : AGXT gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : AGXT gene Del Dup Full Mut Anl Bld/T;
LOINC description : Full gene sequence analysis is performed to test for the presence of a mutation in
all coding regions and intron/exon boundaries of the AGXT gene. Additionally, gene
dosage analysis, such as by multiplex ligation-dependent probe amplification (MLPA),
is used to test for the presence of large deletions and duplications in this gene.
This test is useful for confirming a diagnosis of primary hyperoxaluria type 1 (PH1)
and for testing at-risk individuals with a family history of PH1 in the absence of
known mutations in the family.;
Has component