Clinical implementation of gene panel testing for lysosomal storage diseases.

ABSTRACT:

Background

The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic testing. However, due to the sequential nature of this methodology and inconsistent genotype-phenotype correlations of certain LSDs, finding a diagnosis can be challenging.

Method

We developed and clinically implemented a gene panel covering 50 genes known to cause LSDs when mutated. Over a period of 18 months, we analyzed 150 patients who were referred for LSD testing and compared these results with the data of patients who were previously enrolled in a scheme of classical biochemical testing.

Results

Our panel was able to determine

SUBMITTER: Gheldof A 

PROVIDER: S-EPMC6393649 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature