Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.

ABSTRACT: Next generation sequencing (NGS)-based tests have become routine first-line investigative modalities in paediatric neurology clinics in many high-income countries (HICs). Studies from these countries show that these tests are both cost-effective and reliable in diagnosing many complex childhood neurological diseases. However, NGS-based testing in low-and middle-income countries (LMICs) is limited due to affordability constraints. The primary objective of this study was to evaluate the diagnostic yield and impact of targeted gene panel sequencing in a selected paediatric cohort attending a tertiary paediatric neurology clinic in the Western Cape Province of South Africa. This retrospective study included 124 consecutive paediatric patients with neurological disease, aged 6 weeks to 17 years

SUBMITTER: van Niekerk M 

PROVIDER: S-EPMC11499987 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature