The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa.

ABSTRACT: Next generation sequencing (NGS) based tests have become first-line investigative modalities in adult neurogenetic clinics. Studies in high-income countries (HICs) show that NGS is cost-effective and reliable in diagnosing adult neurogenetic disorders (NGDs). African populations harbour vast genomic diversity, but there is limited knowledge on the molecular basis of NGDs affecting these populations due to lack of access to the necessary technology. The primary objective of this retrospective study was to describe the clinical utility of NGS panels in an African low-middle income country (LMIC). It included data of 74 adult participants seen at the multidisciplinary neurogenetic clinic at Tygerberg Hospital, South Africa, over a 4 - year period. Forty-three symptomatic index cases underwent

SUBMITTER: Van Tonder C 

PROVIDER: S-EPMC12402217 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature