Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
Delayed Diagnosis
False Positive Reactions
Gene Expression Regulation
Gene Library
Genetic Predisposition to Disease
Genetic Variation
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Lysosomal Storage Diseases
/ genetics
Mutation
Neonatal Screening
/ methods
Polymorphism, Single Nucleotide
Reproducibility of Results
lysosomal storage disease (LSDs)
newborn screening (NBS)
targeted next-generation sequencing (tNGS)
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
17 Sep 2021
17 Sep 2021
Historique:
received:
29
06
2021
revised:
02
09
2021
accepted:
14
09
2021
entrez:
28
9
2021
pubmed:
29
9
2021
medline:
16
11
2021
Statut:
epublish
Résumé
Lysosomal storage diseases (LSDs) are a heterogeneous group of approximately 70 monogenic metabolic disorders whose diagnosis represents an arduous challenge for clinicians due to their variability in phenotype penetrance, clinical manifestations, and high allelic heterogeneity. In recent years, the approval of disease-specific therapies and the rapid emergence of novel rapid diagnostic methods has opened, for a set of selected LSDs, the possibility for inclusion in extensive national newborn screening (NBS) programs. Herein, we evaluated the clinical utility and diagnostic validity of a targeted next-generation sequencing (tNGS) panel (called NBS_LSDs), designed ad hoc to scan the coding regions of six genes (
Identifiants
pubmed: 34576242
pii: ijms221810064
doi: 10.3390/ijms221810064
pmc: PMC8470217
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Joint project between IRIB-CNR and SANOFI
ID : Early diagnosis of some lysosomal diseases: analysis of the clinical utility and diagnostic valid-ity of genomic techniques for their molecular diagnosis. Assessments of the implications of the in-clusion of lysosomal diseases in the context of a national
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