94202-9
GRHPR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Active
Term Description
Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the GRHPR gene. Testing is used to confirm a diagnosis of primary hyperoxaluria type 2 (PH2) and for carrier testing for individuals with a family history of PH2 in the absence of known mutations in the family.
Source: Regenstrief LOINC
Part Description
LP208428-5 GRHPR gene
The GRHPR gene (glyoxylate reductase/hydroxypyruvate reductase) [HGNC Gene ID:4570] is located on chromosome 9q12. This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:9380]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GRHPR gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- GRHPR Del+Dup + Full Mut Anl Bld/T
- Display Name
- GRHPR gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GRHPR gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen GRHPR estudio delecion+duplicacion y estudio mutacional completo: |
es-MX | Spanish (Mexico) | Eliminación del gen GRHPR + análisis de duplicación y mutación completa: |
fr-FR | French (France) | GRHPR gène délétion+duplication et analyse complète des mutations: |
it-IT | Italian (Italy) | GRHPR, gene Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione Gene GRHPR Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | GRHPR-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: GRHPR gen molgen |
zh-CN | Chinese (China) | GRHPR 基因 缺失+重复与全面的突变分析: Synonyms: 临床文档型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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