Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

ABSTRACT:

Background

Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically. Targeted disease specific gene panel massively parallel sequencing (MPS) seems to be a useful tool in diagnosis of disorders with high genetic heterogeneity.

Methods

In our study, we have designed, validated and updated our own custom gene panel of all known genes associated with IPN. One hundred and ninety-eight patients have been tested so far. Only patients in whom mutations in more common causes or relevant genes have already been excluded were enrolled. Five consecutive panel designs were prepared according to recent literature search, the last one covering ninety-three genes. Each patient w

SUBMITTER: Lassuthova P 

PROVIDER: S-EPMC4994270 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature