NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method   94211-0

LOINC Code


LOINC code94211-0
nameNPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
descriptionFull 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]
statusACTIVE

Fully-Specified Name

componentNPC1 gene+NPC2 gene deletion+duplication & full mutation analysis
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameNPC1+NPC2 Del+Dup + Full Mut Anl Bld/T

Basic Attributes

classMOLPATH
type1  Laboratory
order vs. observationBoth

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 updated2.68
last change typeADD  - added

Related Names

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

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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