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September 21, 2007Clinical ChemistryOpen Access

Assessment of Liquid Microbead Arrays for the Screening of Newborns for Spinal Muscular Atrophy

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Why the study?

Do liquid microbead arrays accurately identify newborns with spinal muscular atrophy by detecting SMN1 gene deletions?

Population

367 blood spots including 164 from individuals affected by spinal muscular atrophy, 46 from known carriers…

Design

Other

Authors

RPRobert E. PyattDMDavid MihalTPThomas W. Prior

Discussion

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Overview

Supports microbead arrays for accurate SMA newborn screening; extends molecular options but leaves open prospective validation.

Structured PICO

Do liquid microbead arrays accurately identify newborns with spinal muscular atrophy by detecting SMN1 gene deletions?

P
Population
367 blood spots including 164 from individuals affected by spinal muscular atrophy, 46 from known carriers, and 157 from unaffected individuals
I
Intervention
Liquid microbead arrays (MultiCode-PLx and Tag-It on Luminex 200) for detecting homozygous deletions in exon 7 of the SMN1 gene
O
Outcome
Identification of affected individuals (sensitivity and specificity for detecting homozygous deletions in exon 7 of the SMN1 gene)surrogate

Liquid microbead arrays provide a highly sensitive and specific method for direct DNA analysis to screen newborns for spinal muscular atrophy.

Cite This Study

Pyatt et al. (2007) studied this question.

synapsesocial.com/papers/6a851fe6a5209256b9c2a2cahttps://doi.org/10.1373/clinchem.2007.092312
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Also Consider

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  1. 1State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False-Positive Results2006 · 161 citations
  2. 2Multiplexed Genetic Analysis Using an Expanded Genetic Alphabet2004 · 55 citations
  3. 3Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function2005 · 480 citations