Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Shirin IbrahimJeroen van RooijAnnemieke J M H VerkerkJard de VriesLinda ZuurbierJoep DefescheJorge PeterWillemijn A M SchonckBahareh Sedaghati-KhayatG Kees Kornelis HovinghAndre G UitterlindenErik S G StroesLaurens F ReeskampPublished in: Circulation. Genomic and precision medicine (2023)
The FH genotyping array is a promising tool for genetically diagnosing FH at low costs and has the potential to greatly increase accessibility to genetic testing for FH. Continuous customization of the array will further improve its performance.