![]() The platform demonstrated high diagnostic sensitivity and specificity when compared to matched patient upper respiratory specimens. Here, we used a novel sensitive RT-PCR/MALDI-TOF mass spectrometry-based assay (Agena MassARRAY®) to detect SARS-CoV-2 in saliva specimens. While saliva has been described as an acceptable clinical matrix for the detection of SARS-CoV-2, evaluations of analytic performance across platforms for this specimen type are limited. Although multiple diagnostic methods utilize nasopharyngeal specimens, saliva specimens represent an attractive alternative as they can rapidly and safely be collected from different populations. 10.1016/j.jpeds.2017.06.As severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infections continue, there is a substantial need for cost-effective and large-scale testing that utilizes specimens that can be readily collected from both symptomatic and asymptomatic individuals in various community settings. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. ![]() High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. E., Nakanishi K., Awano H., Morioka I., et al. The first large-scale pilot study using this assay in the Mainland of China showed that large-scale implementation of population-based NBS for SMA is feasible.Īgena iPLEX assay MassARRAY genotyping SMN1 SMN2 newborn screening spinal muscular atrophy.Ĭopyright © 2019 Lin, Lin, Yin, Zhu, Yang, Shen, Yang, Chen, Hu, Ma, Shi, Shen, Hu, Huang and Huang.Īr Rochmah M., Harahap N. Conclusions: The Agena iPLEX SMA assay is an effective and reliable approach for population-based SMA NBS. Another patient with four SMN2 copies, whose genotype correlated with milder SMA type III or IV phenotype, had normal growth and development without clinical symptoms. Two patients had two SMN2 copies, which was correlated with severe SMA type I phenotype both of them exhibited neurogenic lesion and with decreased muscle power. Three patients with homozygous SMN1 deletion were successfully identified and conformed by multiplex ligation-dependent probe amplification analysis. Results: The sensitivity and specificity of the Agena iPLEX SMA assay were both 100%. The SMN1 and SMN2 copy number of screen-positive patients were determined by multiplex ligation-dependent probe amplification analysis. Then we conducted a pilot study to apply this assay for SMA NBS. ![]() Methods: We developed an Agena iPLEX SMA assay based on the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, and evaluated the performance of this assay through assessment of 167 previously-genotyped samples. This study aimed to determine the feasibility of applying an Agena iPLEX SMA assay in NBS for SMA in China. Early detection of SMA through newborn screening (NBS) is essential to selecting pre-symptomatic treatment and ensuring optimal outcome, as well as, prompting the urgent need for effective screening methods. 10 Research and Development Center, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, China.īackground: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder and the leading genetic cause of infant mortality. ![]() 9 Department of Pediatrics, Yancheng Maternity and Child Health Care Hospital, Yancheng, China.8 Neonatal Disease Screening Center, Hefei Women and Children's Health Care Hospital, Hefei, China.7 Neonatal Disease Screening Center, Jining Maternal and Child Health Family Service Center, Jining, China.6 Neonatal Disease Screening Center, Huaihua Maternal and Child Health Hospital, Huaihua, China.5 Department of Translational Medicine, Hangzhou Genuine Clinical Laboratory Co.4 Department of Clinical Psychology, School of Health in Social Science, The University of Edinburg, Edinburg, United Kingdom.3 Department of Research and Development, Feng Chi Biotech Corp, Taipei, Taiwan.2 Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, Quanzhou, China.1 Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China. ![]()
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