94212-8
PKLR 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 for the detection of variants and large deletions/duplications in the PKLR gene in patients with low levels of erythrocytic PK enzymatic activity. Testing is performed to aid in the diagnosis of pyruvate kinase (PK) deficiency.
Source: Regenstrief LOINC
Part Description
LP62085-3 PKLR gene
The PKLR gene (pyruvate kinase, liver and RBC) [HGNC Gene ID:9020] is located on chromosome 1q21. The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5313]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PKLR gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- PKLR gene Del+Dup + Full Mut Anl Bld/T
- Display Name
- PKLR gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- PKLR 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 PKLR estudio delecion+duplicacion y estudio mutacional completo: |
es-MX | Spanish (Mexico) | Eliminación del gen PKLR + duplicación y análisis de mutación completo: |
fr-FR | French (France) | PKLR gène délétion+duplication et analyse complète des mutations: |
it-IT | Italian (Italy) | PKLR, gene Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione GenePKLR Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | PKLR-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: molgen PKLR gen |
tr-TR | Turkish (Turkey) | PKLR geni delesyon+duplikasyon ve tam mutasyon analizi: Synonyms: çiftleme |
zh-CN | Chinese (China) | PKLR 基因 缺失+重复与全面的突变分析: Synonyms: PK1; |
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