Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders

Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders

Introduction: Dried blood spot (DBS) samples have been used for diagnostic purposes since its introduction for the neonatal screening of phenylketonuria almost 50 years ago. From that time onwards, the range of its applications has been extended until today, including next-generation sequencing (NG...

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Bibliographic Details
Main Authors: Alice Brinckmann Oliveira Netto, Diana Rojas Málaga, Francyne Kubaski, Ana Carolina Brusius Facchin, Roberto Giugliani
Format: Article
Language:English
Published: Hospital de Clinicas de Porto Alegre ; Universidade Federal do Rio Grande do Sul (UFRGS) 2023-01-01
Series:Clinical and Biomedical Research
Subjects:
DNA extraction
dried blood spots
molecular genetics diagnosis
newborn screening
target next-generation sequencing
Online Access:https://seer.ufrgs.br/index.php/hcpa/article/view/114246

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https://seer.ufrgs.br/index.php/hcpa/article/view/114246

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