94211-0
LaboratoryNPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
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]
LOINC 6-Axis Classification
Component
NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
NPC1+NPC2 Del+Dup + Full Mut Anl Bld/T
Display Name
NPC1 gene+NPC2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94211-0?
LOINC code 94211-0 identifies "NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". 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]
What does 94211-0 measure?
This code measures NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.