Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

ABSTRACT: Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an important burden on affected individuals and their families but also on national health care systems worldwide. Here, we present our results on the use of an in-house customized next-generation sequencing (NGS) panel of genes related to lysosome function as a first-line molecular test for the diagnosis of LSDs. Ultimately, our goal is to provide a fast and effective tool to screen for virtually all LSDs in a single run, thus contributing to decrease the diagnostic odyssey, accelerating the time to dia

SUBMITTER: Encarnacao M 

PROVIDER: S-EPMC7503609 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature