Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease.
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ABSTRACT:
SUBMITTER: Martella M
PROVIDER: S-EPMC7510190 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Publications
Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease.
Martella Maddalena M Viola Giampietro G Azzena Silvia S Schiavon Sara S Biondi Andrea A Basso Giuseppe G Corti Paola P Colombatti Raffaella R Masera Nicoletta N Sainati Laura L
International journal of neonatal screening 20181221 1
A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of the β-globin gene (<i>HBB</i>) was the confirmatory test performed on the HPLC-positive or indeterminate samples. 5466 samples of newborns were evaluated. Of these, 5439/5466 were submitted to HPLC anal ...[more]
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