Article
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2024
Nunziato Marcella, Starnone Flavio, Giordano Sonia, D'Antonio Marcella, Scognamiglio Domenico, Esposito Maria Valeria, Correra Antonio, Di Maggio Federica, D'Argenio Valeria, Scaglione Giovanni Luca, Castaldo Giuseppe, Salvatore Francesco
Abstract excerpt
BACKGROUND: Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by deleterious mutations in the CFTR gene. Conventionally, the disease is diagnosed in several phases. The analysis of all the possible disease-causing molecular alterations is time consuming and may not lead to a definitive diagnosis in several...
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