Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows

Genetic testing for SMA diagnosis, newborn screening, and carrier screening has become a significant public health interest worldwide, driven largely by the development of novel and effective molecular therapies for the treatment of spinal muscular atrophy (SMA) and the corresponding updates to test...

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Bibliographic Details
Main Authors: John N. Milligan, Laura Blasco-Pérez, Mar Costa-Roger, Marta Codina-Solà, Eduardo F. Tizzano
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Genes
Subjects:
spinal muscular atrophy
carrier screening
diagnosis
<i>SMN1</i>
<i>SMN2</i>
Online Access:https://www.mdpi.com/2073-4425/13/9/1657

Internet

https://www.mdpi.com/2073-4425/13/9/1657

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