Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

The MC002 test showed the feasibility and accuracy of SMA screening in a neonatal screening program.

Bibliographic Details
Main Authors: Annuska Strunk, Andre Abbes, Antoine R. Stuitje, Chris Hettinga, Eline Sepers, Reinier Snetselaar, Jan Schouten, Fay-Lynn Asselman, Inge Cuppen, Henny Lemmink, W. Ludo van der Pol, Henk Engel
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
SMA
melting curve, two-tiered testing, copy numbers SMN1 and SMN2 gene
Online Access:https://www.mdpi.com/2409-515X/5/2/21

Internet

https://www.mdpi.com/2409-515X/5/2/21

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