A rapid screening test for Duchenne muscular dystrophy using dried blood specimens

A very simple fluorescent spot screening test for the detection of elevated creatine kinase activity in dried blood specimens is described. The assay uses reagents commercially available in kit form and modifies the procedure for use with whole blood spotted on filter paper. Additional amounts of di...

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Bibliographic Details
Published inClinica chimica acta Vol. 138; no. 3; pp. 267 - 274
Main Authors Orfanos, Adam P., Naylor, Edwin W.
Format Journal Article
LanguageEnglish
Published Shannon Elsevier B.V 27.04.1984
Elsevier
Subjects
Biological and medical sciences
Clinical Enzyme Tests - methods
Creatine Kinase - blood
Creatine phosphokinase
Diseases of striated muscles. Neuromuscular diseases
Dried blood specimen
Fluorescence
Humans
Infant
Medical sciences
Muscular Dystrophies - diagnosis
Muscular dystrophy
Neurology
Risk
Screening
Screening
Creatine phosphokinase
Dried blood specimen
Muscular dystrophy
Duchenne muscular dystrophy
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Summary:A very simple fluorescent spot screening test for the detection of elevated creatine kinase activity in dried blood specimens is described. The assay uses reagents commercially available in kit form and modifies the procedure for use with whole blood spotted on filter paper. Additional amounts of diadenosine pentaphosphate had to be added to the reaction mixture to inhibit the excess adenylate kinase present in erythrocytes. The sensitivity and reliability of the test is demonstrated. This qualitative assay has the potential for use as a mass neonatal screening test for Duchenne muscular dystrophy.
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ISSN:0009-8981
1873-3492
DOI:10.1016/0009-8981(84)90133-5