LOINC
Version 2.72

100023-1IDH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

Part Description

LP265706-4   IDH2 gene
The IDH2 (isocitrate dehydrogenase 2, mitochondrial) gene [HGNC Gene ID:5383] is located on chromosome 15 at 15q26.1. The IDH2 gene encodes the isocitrate dehydrogenase 2 enzyme found in mitochondria and involved in intermediary metabolism and energy production. Mutations in the IDH2 gene are associated with various conditions, including 2-hydroxyglutaric aciduria, Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, and gliomas. The mutations associated with Maffucci syndrome, Ollier disease, and other cancer-related conditions are somatic gain-of-function mutations in which the enzyme takes on a new, abnormal function.[MedlinePlus Gene:IDH2] Source: Regenstrief LOINC

Fully-Specified Name

Component
IDH2 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
IDH2 gene Mut Anl Bld/T
Display Name
IDH2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
IDH2 gene variant analysis, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.72
Last Updated
Version 2.72
Order vs. Observation
Both

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100023-1