NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

NPC1+NPC2 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 NPC1 and NPC2 genes. In addition, deletion/duplication analysis, such as by multiplex ligation-dependent probe amplification (MLPA), detects presence of large deletions or duplications in these genes. Testing is performed to diagnosis Niemann-Pick type C (NPC), an inherited disorder of cholesterol transport that results in a build up accumulation of cholesterol and glycosphingolipids in the endosomal/lysosomal system.[GHR gene:NPC1][GHR gene:NPC2]

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; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; Niemann-Pick disease, type C1; NPC; NPC intracellular cholesterol transporter 1; NPC1+NPC2; PCR; POGZ; Point in time; Random; sequencing of entire coding region; SLC65A1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue