LOINC display name : NPC1 gene NPC2 gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : NPC1 gene NPC2 gene deletion duplication and full mutation analysis in Blood or Tissue
by Molecular genetics method;
LOINC short name : NPC1 NPC2 Del Dup Full Mut Anl Bld/T;
LOINC description : 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];
Has component