AGXT gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

AGXT gene Del+Dup + Full Mut Anl Bld/T

Definition

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.

2q37.3; AGT; AGT1; AGXT1; alanine-glyoxylate aminotransferase; Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; L-alanine: glyoxylate aminotransferase 1; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; oxalosis I; PCR; PH1; Point in time; primary hyperoxaluria type 1; Random; sequencing of entire coding region; serine:pyruvate aminotransferase; SPAT; SPT; Tissue; Tissue, unspecified; TLH6; WB; Whole blood; Whole blood or Tissue

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