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Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population

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PerkinElmer, Wallac Oy, Mustionkatu 6, 20750 Turku, Finland
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American College of Medical Genetics and Genomics, Bethesda, MD 20814, USA
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Danish Center for Neonatal Screening, Statens Serum Institut, 2300 Copenhagen, Denmark
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Parent Project Muscular Dystrophy, Hackensack, NJ 07601, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2019, 5(3), 27; https://doi.org/10.3390/ijns5030027
Received: 11 June 2019 / Revised: 12 July 2019 / Accepted: 31 July 2019 / Published: 27 August 2019
(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)
Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involves assessment of screening newborns for DMD using an immunoassay for muscle-type (MM) creatine kinase (CK) isoform—the GSP Neonatal CK-MM kit. Comparisons were made with CK activity determination by fluorescence measurement. In addition, the study evaluated the effect of gestational age, age of infant at time of sampling and how stable the CK-MM was over time. This assay discriminates well between normal, unaffected and Duchenne affected populations and is suitable for Duchenne newborn screening. View Full-Text
Keywords: Duchenne muscular dystrophy; creatine kinase; newborn screening Duchenne muscular dystrophy; creatine kinase; newborn screening
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Timonen, A.; Lloyd-Puryear, M.; Hougaard, D.M.; Meriö, L.; Mäkinen, P.; Laitala, V.; Pölönen, T.; Skogstrand, K.; Kennedy, A.; Airenne, S.; Polari, H.; Korpimäki, T. Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population. Int. J. Neonatal Screen. 2019, 5, 27.

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