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
LOINC Copyright
Copyright © 2022 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright