Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs

Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs

Since the approval of modifying therapies for Spinal Muscular Atrophy (SMA), several protocols aiming to screen <i>SMN1</i> homozygous deletion in a neonatal context have been published. However, no work has compared different methodologies along with detailed implementation costs for ce...

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Bibliographic Details
Main Authors: Vanessa Luiza Romanelli Tavares, Frederico Monfardini, Naila Cristina Vilaça Lourenço, Katia Maria da Rocha, Karina Weinmann, Rita Pavanello, Mayana Zatz
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Neonatal Screening
Subjects:
spinal muscular atrophy
screening test
neonatal screening
<i>SMN1</i>
real-time PCR
genetic diagnosis
Online Access:https://www.mdpi.com/2409-515X/7/3/53

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https://www.mdpi.com/2409-515X/7/3/53

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