The test identifies carriers of a genetic variant found in up to 60% of Alzheimer’s patients, helping clinicians triage patients and guide treatment decisions.
Roche has received CE Mark approval for its Elecsys Apolipoprotein E4 (ApoE4) biomarker test, an in-vitro diagnostic (IVD) immunoassay designed to identify the presence of the ApoE4 gene variant in the bloodstream, the company announced.
The ApoE4 gene variant is associated with an increased risk of late-onset Alzheimer’s disease and is present in approximately 40–60% of Alzheimer’s patients, according to Roche. Alzheimer’s disease accounts for up to 70% of dementia cases worldwide and is predicted to affect nearly 150 million people by 2050.
Until now, confirming ApoE4 carrier status has relied on molecular DNA testing. The Elecsys ApoE4 test uses a minimally invasive blood sample to determine whether a patient carries the ApoE4 variant, enabling clinicians to efficiently filter out non-carriers and reserve genetic testing for those who need it most. For patients identified as carriers, follow-up genetic testing can confirm status and provide more detailed insights.
“The approval of the Elecsys ApoE4 biomarker test is an important step forward in providing clinicians with a simple, accessible tool to identify genetic risk and guide Alzheimer’s treatment decisions,” says Matt Sause, chief executive officer of Roche Diagnostics, in a release. “By helping clinicians quickly identify and triage ApoE4 carriers among patients with cognitive decline, the test simplifies the diagnostic process as well as patient management.”
Clinical Performance and Test Design
The Elecsys ApoE4 test is an in vitro immunoassay for the qualitative determination of Apolipoprotein E4 in human plasma. It is intended to determine ApoE4 carrier status—carrier or non-carrier—in adults with signs and symptoms of cognitive impairment.
Clinical performance was assessed in a prospective multicenter study involving 607 participants with cognitive complaints or objective memory impairment of unknown etiology. Results were compared with APOE4 genotyping performed by Sanger bidirectional sequencing. The assay demonstrated 100% concordance between ApoE4 protein results and genetic APOE4 status, correctly identifying all genetic carriers and non-carriers, according to Roche.
Identifying carrier status has gained increased clinical importance in the context of disease-modifying therapies (DMTs). ApoE4 carriers—particularly those who have inherited two copies of the gene—experience a significantly higher incidence of Amyloid-Related Imaging Abnormalities (ARIA) during treatment with monoclonal anti-amyloid antibodies than non-carriers. ARIA are temporary brain changes, such as swelling or microscopic bleeds, that can occur when anti-amyloid antibodies begin clearing plaques from the brain, according to Roche.
ApoE4 is recognized by the 2024 Alzheimer’s Association criteria and International Working Group recommendations as a clinically relevant genetic risk factor for Alzheimer’s disease. Carrying the e4 allele has been associated with a higher likelihood of developing Alzheimer’s disease, lower average age at symptom onset, and faster cognitive decline—including accelerated progression from mild cognitive impairment (MCI) to Alzheimer’s dementia—compared with non-carriers.
Integration Into the Alzheimer’s Diagnostic Pathway
The Elecsys ApoE4 test is designed to work alongside Roche’s other blood-based Alzheimer’s disease biomarkers, including the recently CE-marked Elecsys pTau181 test, which assesses the presence of key proteins associated with Alzheimer’s disease. Together, these biomarkers are intended to provide insights across the diagnostic journey, helping clinicians detect the disease earlier and inform decisions about patient care after diagnosis.
The Elecsys ApoE4 test can be integrated into the diagnostic workflow using the installed base of Roche instruments currently available in countries accepting the CE mark, providing a scalable, plasma-based solution to support the Alzheimer’s diagnostic pathway, according to the company.
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