First IVD Immunoassay to Detect Alzheimer’s Risk Gene Variant Receives CE Mark

Alzheimer’s disease accounts for up to 70% of dementia cases worldwide and is projected to affect nearly 150 million people by 2050, underscoring the need for scalable, accessible diagnostics. The apolipoprotein E4 (ApoE4) genetic variant is present in approximately 40–60% of patients diagnosed with Alzheimer’s disease and has traditionally required molecular DNA testing to confirm carrier status. Rapidly distinguishing carriers from non-carriers may streamline diagnostic pathways and patient management. A new CE‑marked blood test now enables laboratories to identify ApoE4 carriers from a single plasma sample.

Roche’s Elecsys Apolipoprotein E4 biomarker test has received CE mark approval, becoming the first CE-marked in vitro diagnostic immunoassay designed to identify the presence of the ApoE4 gene variant directly in the bloodstream. The ApoE4 genetic variant is associated with an increased risk of late-onset Alzheimer’s disease.

Elecsys ApoE4 is a qualitative in‑vitro immunoassay that detects apolipoprotein E4 in human plasma to determine carrier status in adults who present with signs and symptoms of cognitive impairment. Using a single, minimally invasive blood draw, the assay differentiates carriers from non‑carriers, providing a fast and accessible option to screen patients. The approach can eliminate confirmatory genetic testing for the proportion of patients who are non‑carriers, while those identified as carriers may undergo follow‑up genotyping for confirmation.

The CE Mark enables use in countries that accept this conformity assessment, with broad access supported by the installed base of Roche instruments. The assay is positioned to work alongside the CE‑marked Elecsys pTau181 blood test, which is designed to rule out amyloid pathology associated with Alzheimer’s disease, providing complementary biomarker information across the diagnostic pathway.

The clinical performance of the assay was assessed in a prospective multicenter study that enrolled 607 participants with cognitive complaints or objective memory impairment of unknown etiology. Results from Elecsys ApoE4 were compared with APOE4 genotyping performed by Sanger bidirectional sequencing. The assay demonstrated 100% concordance with genetic APOE4 status, correctly identifying all carriers and non‑carriers.

Growing availability of blood‑based biomarkers is pertinent as the use of disease‑modifying therapies (DMTs) may be influenced by a patient’s genetic profile; ApoE4 carriers, particularly homozygous individuals, experience a higher incidence of amyloid‑related imaging abnormalities during monoclonal anti‑amyloid antibody treatment.

“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,” said Matt Sause, CEO of Roche Diagnostics. “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.”

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