Abstract
Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder with a birth prevalence of 19.8:100,000 males worldwide. Elevated concentration of the muscle enzyme creatine kinase-MM (CK-MM) allows for presymptomatic screening of newborns using Dried Blood Spots (DBS). We evaluated imprecision and carryover of the FDA-approved PerkinElmer GSP Neonatal CK-MM kit over multiple runs, days, and operators, followed by quantification of CK-MM loss in stored newborn, contrived, and non-newborn patient DBS resulting from exposure to ambient versus low humidity (50-day trial), and high humidity and high temperature (8-day trial). Imprecision %CV was ≤14% for all verification comparisons and over 6 months of testing. On average, the mean CK-MM recovery after 50 days was >80% of initial concentration for all sample types stored in low humidity and <80% in ambient humidity. After 8 days of storage in high humidity and high temperature, the mean recovery for newborn samples was <80%. Verification results for the GSP Neonatal CK-MM assay were concordant with kit parameters and the assay performed consistently over 6 months. CK-MM degradation in ambient storage can be mitigated by reducing exposure to humidity. Assessment of DBS shipping and storage conditions is recommended prior to implementing DMD screening.
Highlights
IntroductionDuchenne Muscular Dystrophy (DMD) is an X-linked degenerative neuromuscular disorder causing severe progressive muscle loss and premature death by the mid-30s [1]
Additional assay performance data collected for calibrators and Quality Control (QC) specimens (Table 1) over 6 months of creatine kinase-MM (CK-MM) screening [22] as a part of the Early Check study [23] were ≤11.5% Coefficient of Variation (CV)
We show that the performance of the Genetic Screening Processor (GSP)-based creatine kinase (CK)-MM assay is similar to other newborn screening (NBS)
Summary
Duchenne Muscular Dystrophy (DMD) is an X-linked degenerative neuromuscular disorder causing severe progressive muscle loss and premature death by the mid-30s [1]. It is caused by mutations in the gene coding for the protein dystrophin, an important component within muscle tissue that provides structural stability to cells by participating in linking the cytoskeleton to the extracellular matrix [2,3]. The birth prevalence of DMD is 19.8:100,000 males worldwide [4], while females are typically asymptomatic carriers or have mild muscle and cardiac symptoms [5,6]. Females who manifest DMD are exceedingly rare [7]
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