LOINC
Version 2.73

100305-2IDH1 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics methodActive

Part Description

LP432138-8   IDH1 gene exon 4
The IDH1 (isocitrate dehydrogenase 1, cytosolic) gene [HGNC Gene ID:5382] is located on chromosome 2 at 2q34. The IDH1 gene encodes the isocitrate dehydrogenase 1 enzyme, which is primarily found in cytoplasm of cells as well as in peroxisomes. Mutations in the IDH1 gene are associated with various conditions, including Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, gliomas, and chondrosarcomas. 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:IDH1] Source: Regenstrief LOINC

Fully-Specified Name

Component
IDH1 gene exon 4 targeted mutation analysis
Property
PrThr
Time
Pt
System
Bld/Bone mar
Scale
Ord
Method
Molgen

Additional Names

Short Name
IDH1 exon 4 Mut Anl Bld/Mar Ql
Display Name
IDH1 gene exon 4 targeted mutation analysis Molgen Ql (Bld/BM)
Consumer Name Alpha
IDH1 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
Both

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100305-2