LOINC
Version 2.73

100306-0IDH2 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics methodActive

Part Description

LP432139-6   IDH2 gene exon 4
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 exon 4 targeted mutation analysis
Property
PrThr
Time
Pt
System
Bld/Bone mar
Scale
Ord
Method
Molgen

Additional Names

Short Name
IDH2 exon 4 Mut Anl Bld/Mar Ql
Display Name
IDH2 gene exon 4 targeted mutation analysis Molgen Ql (Bld/BM)
Consumer Name Alpha
IDH2 gene exon 4 variant analysis, Blood Or Bone marrow

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 2.73
Last Updated
Version 2.73
Order vs. Observation
Observation

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