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Increased glucose-6-phosphate dehydrogenase level in dried blood spot

MedGen UID:
1641574
•Concept ID:
C4703667
•
Finding
Synonyms: Increased G6PD level in dried blood spot; Increased glucose-6-phosphate dehydrogenase level in DBS
 
HPO: HP:0410181

Definition

An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased glucose-6-phosphate dehydrogenase level in dried blood spot

Professional guidelines

PubMed

Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program.
Chiu YH, Chen HJ, Chang YC, Liu YN, Kao SM, Liu MY, Weng YY, Hsiao KJ, Liu TT
Clin Chim Acta 2019 Aug;495:271-277. Epub 2019 Apr 22 doi: 10.1016/j.cca.2019.04.074. PMID: 31022393

Recent clinical studies

Etiology

Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program.
Chiu YH, Chen HJ, Chang YC, Liu YN, Kao SM, Liu MY, Weng YY, Hsiao KJ, Liu TT
Clin Chim Acta 2019 Aug;495:271-277. Epub 2019 Apr 22 doi: 10.1016/j.cca.2019.04.074. PMID: 31022393
High-Throughput, Multiplex Genotyping Directly from Blood or Dried Blood Spot without DNA Extraction for the Screening of Multiple G6PD Gene Variants at Risk for Drug-Induced Hemolysis.
Tian X, Zhou J, Zhao Y, Cheng Z, Song W, Sun Y, Sun X, Zheng Z
J Mol Diagn 2017 Sep;19(5):638-650. doi: 10.1016/j.jmoldx.2017.05.007. PMID: 28826608

Diagnosis

Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program.
Chiu YH, Chen HJ, Chang YC, Liu YN, Kao SM, Liu MY, Weng YY, Hsiao KJ, Liu TT
Clin Chim Acta 2019 Aug;495:271-277. Epub 2019 Apr 22 doi: 10.1016/j.cca.2019.04.074. PMID: 31022393
High-Throughput, Multiplex Genotyping Directly from Blood or Dried Blood Spot without DNA Extraction for the Screening of Multiple G6PD Gene Variants at Risk for Drug-Induced Hemolysis.
Tian X, Zhou J, Zhao Y, Cheng Z, Song W, Sun Y, Sun X, Zheng Z
J Mol Diagn 2017 Sep;19(5):638-650. doi: 10.1016/j.jmoldx.2017.05.007. PMID: 28826608

Therapy

High-Throughput, Multiplex Genotyping Directly from Blood or Dried Blood Spot without DNA Extraction for the Screening of Multiple G6PD Gene Variants at Risk for Drug-Induced Hemolysis.
Tian X, Zhou J, Zhao Y, Cheng Z, Song W, Sun Y, Sun X, Zheng Z
J Mol Diagn 2017 Sep;19(5):638-650. doi: 10.1016/j.jmoldx.2017.05.007. PMID: 28826608

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