Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

ABSTRACT:

Background

With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling.

Methods

We have designed a targeted resequencing assay for the simultaneous testing of 57 lysosomal genes, using in-solution capture as the enrichme

SUBMITTER: Fernandez-Marmiesse A 

PROVIDER: S-EPMC4024120 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature