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
Abstract:Introduction: Dried blood spot (DBS) samples have been used for diagnostic purposes since their introduction in the neonatal screening of phenylketonuria almost 50 years ago. The range of its application has been extended to modern approaches, such as next-generation sequencing (NGS) for molecular genetic testing. This study aimed to evaluate the use of a standardized organic method for DNA extraction from DBS samples in the diagnostic setting.
Methods:The clinical applicability of the method was tested using … Show more
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