Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.

ABSTRACT:

Background

Next-generation sequencing has enhanced our understanding of amyotrophic lateral sclerosis (ALS) and its genetic epidemiology. Outside the research setting, testing is often restricted to those who report a family history. The aim of this study was to explore the added benefit of offering routine genetic testing to all patients in a regional ALS centre.

Methods

C9ORF72 expansion testing and exome sequencing was offered to consecutive patients (150 with ALS and 12 with primary lateral sclerosis [PLS]) attending the Oxford Motor Neuron Disease Clinic within a defined time period.

Results

A total of 17 (11.3%) highly penetrant pathogenic variants in C9ORF72, SOD1, TARDBP, FUS and TBK1 were detected, of which 10 were also found through standard clinical genetic

SUBMITTER: Scaber J 

PROVIDER: S-EPMC10947345 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature