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

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

Definition

Full gene sequence analysis is performed to detect the presence of a mutation in all coding regions and intron/exon boundaries of the APC gene. In addition, deletion/duplication analysis, such as by array comparative genomic hybridization (aCGH), is used to test for the presence of large deletions or duplications in the APC gene. This test is used to confirm a diagnosis of familial adenomatous polyposis (FAP) for patients with clinical findings.

Adenomatosis polyposis coli; adenomatous polyposis coli; Adenomatous polyposis of the colon; Amplification; Blood; BTPS2; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; DP2; DP2.5; DP3; Familial adenomatous polyposis; FAP; Finding; Findings; FPC; full gene sequencing; Full Mut Anl; Genetics; GS; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; Point in time; PPP1R46; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

3 further terms