Pitfalls in genetic testing: the story of missed SCN1A mutations.

ABSTRACT:

Background

Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations.

Methods

We sent out a survey to 16 genetic centers performing SCN1A testing.

Results

We collected data on 28 mutations initially missed using Sanger sequencing. All patien

SUBMITTER: Djemie T 

PROVIDER: S-EPMC4947864 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature