Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine <i>SMN2</i> Copy Number

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine <i>SMN2</i> Copy Number

Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS). In January 2018, the New England Newborn Screening Program (NENSP) began statewide screening for SMA using a tiered algorithm looking for th...

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Bibliographic Details
Main Authors: Binod Kumar, Samantha Barton, Jolanta Kordowska, Roger B. Eaton, Anne M. Counihan, Jaime E. Hale, Anne Marie Comeau
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
SMA
sequencing
copy number
<i>SMN2</i>
Online Access:https://www.mdpi.com/2409-515X/7/3/47

Internet

https://www.mdpi.com/2409-515X/7/3/47

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