NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method 94211-0
LOINC Code
LOINC code | 94211-0 | ||
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name | NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method | ||
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] | ||
status | ACTIVE | ||
Fully-Specified Name | |||
component | NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis | ||
property | Find = Finding | ||
time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
scale | Doc = Document: A document that could be in many formats (XML, narrative, etc.) | ||
method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
short name | NPC1+NPC2 Del+Dup + Full Mut Anl Bld/T | ||
Basic Attributes | |||
class | MOLPATH | ||
type | 1 Laboratory | ||
order vs. observation | Both | ||
Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
History/Usage | |||
first released | |||
last updated | 2.68 | ||
last change type | ADD - added | ||
Related Names | |||
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