A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases

With over 60 different disorders and a combined incidence occurring in 1:5000–7000 live births, lysosomal storage diseases (LSDs) represent a major public health problem and constitute an enormous burden for affected individuals and their families. Several reasons make the diagnosis of LSDs an arduo...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Valentina La Cognata, Sebastiano Cavallaro
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	lysosomal storage disease (LSDs) diagnosis targeted next generation sequencing (tNGS) Genetics QH426-470
Acceso en línea:	https://doaj.org/article/a48ccc852a834213ae732c5df9846587
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:a48ccc852a834213ae732c5df9846587
record_format	dspace
spelling	oai:doaj.org-article:a48ccc852a834213ae732c5df98465872021-11-25T17:41:32ZA Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases10.3390/genes121117502073-4425https://doaj.org/article/a48ccc852a834213ae732c5df98465872021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1750https://doaj.org/toc/2073-4425With over 60 different disorders and a combined incidence occurring in 1:5000–7000 live births, lysosomal storage diseases (LSDs) represent a major public health problem and constitute an enormous burden for affected individuals and their families. Several reasons make the diagnosis of LSDs an arduous task for clinicians, including the phenotype and penetrance variability, the shared signs and symptoms, and the uncertainties related to biochemical enzymatic assay results. Developing a powerful diagnostic tool based on next generation sequencing (NGS) technology may help reduce the delayed diagnostic process for these families, leading to better outcomes for current therapies and providing the basis for more appropriate genetic counseling. Herein, we employed a targeted NGS-based panel to scan the coding regions of 65 LSD-causative genes. A reference group sample (<i>n</i> = 26) with previously known genetic mutations was used to test and validate the entire workflow. Our approach demonstrated elevated analytical accuracy, sensitivity, and specificity. We believe the adoption of comprehensive targeted sequencing strategies into a routine diagnostic route may accelerate both the identification and management of LSDs with overlapping clinical profiles, producing a significant reduction in delayed diagnostic response with beneficial results in the treatment outcome.Valentina La CognataSebastiano CavallaroMDPI AGarticlelysosomal storage disease (LSDs)diagnosistargeted next generation sequencing (tNGS)GeneticsQH426-470ENGenes, Vol 12, Iss 1750, p 1750 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	lysosomal storage disease (LSDs) diagnosis targeted next generation sequencing (tNGS) Genetics QH426-470
spellingShingle	lysosomal storage disease (LSDs) diagnosis targeted next generation sequencing (tNGS) Genetics QH426-470 Valentina La Cognata Sebastiano Cavallaro A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases
description	With over 60 different disorders and a combined incidence occurring in 1:5000–7000 live births, lysosomal storage diseases (LSDs) represent a major public health problem and constitute an enormous burden for affected individuals and their families. Several reasons make the diagnosis of LSDs an arduous task for clinicians, including the phenotype and penetrance variability, the shared signs and symptoms, and the uncertainties related to biochemical enzymatic assay results. Developing a powerful diagnostic tool based on next generation sequencing (NGS) technology may help reduce the delayed diagnostic process for these families, leading to better outcomes for current therapies and providing the basis for more appropriate genetic counseling. Herein, we employed a targeted NGS-based panel to scan the coding regions of 65 LSD-causative genes. A reference group sample (<i>n</i> = 26) with previously known genetic mutations was used to test and validate the entire workflow. Our approach demonstrated elevated analytical accuracy, sensitivity, and specificity. We believe the adoption of comprehensive targeted sequencing strategies into a routine diagnostic route may accelerate both the identification and management of LSDs with overlapping clinical profiles, producing a significant reduction in delayed diagnostic response with beneficial results in the treatment outcome.
format	article
author	Valentina La Cognata Sebastiano Cavallaro
author_facet	Valentina La Cognata Sebastiano Cavallaro
author_sort	Valentina La Cognata
title	A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases
title_short	A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases
title_full	A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases
title_fullStr	A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases
title_full_unstemmed	A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases
title_sort	comprehensive, targeted ngs approach to assessing molecular diagnosis of lysosomal storage diseases
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/a48ccc852a834213ae732c5df9846587
work_keys_str_mv	AT valentinalacognata acomprehensivetargetedngsapproachtoassessingmoleculardiagnosisoflysosomalstoragediseases AT sebastianocavallaro acomprehensivetargetedngsapproachtoassessingmoleculardiagnosisoflysosomalstoragediseases AT valentinalacognata comprehensivetargetedngsapproachtoassessingmoleculardiagnosisoflysosomalstoragediseases AT sebastianocavallaro comprehensivetargetedngsapproachtoassessingmoleculardiagnosisoflysosomalstoragediseases
_version_	1718412122233241600

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases

Ejemplares similares