Development and evaluation of clinically effective APOE Genotyping SNP Array System for ARIA risk assessment in Alzheimer’s disease patients

AAIC 2025 -- The anti-amyloid-β (Aβ) antibody drugs for Alzheimer’s disease (AD), Lecanemab and Donanemab, have been approved in the United States, Japan and other countries. One of the common side effects, Amyloid-Related Imaging Abnormalities (ARIA), have been reported for these anti-Aβ antibody drugs, with the incidence of ARIA varying based on apolipoprotein E (APOE) genotype. In both the United States and Japan, it is recommended that APOE genotyping tests be conducted to identify the risk of ARIA prior to these AD drug treatments. Labcorp offers a quality-controlled APOE Genotyping Single Nucleotide Polymorphism (SNP) Array, APOE Genotyping SNP Array System, as a laboratory developed test (LDT). In this study, we confirmed analytical performance, including accuracy, intra-assay precision, and inter-assay precision. Furthermore, we verified the equivalence between APOE Genotyping SNP Array System and the real-time polymerase chain reaction (PCR) assay used to determine APOE genotype in the Phase III Donanemab clinical trial (TRAILBLAZER-ALZ 2). The real-time PCR assay performed in this study was conducted under identical laboratory conditions – using the same reagents, instrumentation and standardized operating procedures (SOPs) – as those used in the Donanemab clinical trial.