Roche receives CE mark for the first IVD immunoassay blood test to identify carriers of ApoE4, a genetic variant present in up to 60% of patients diagnosed with Alzheimer’s disease¹

• The Elecsys ApoE4 test is the first CE marked in-vitro diagnostic immunoassay to identify individuals carrying the ApoE4 genetic variant using a simple blood sample.
• The test offers a fast, reliable and accessible option to rapidly differentiate between carriers and non-carriers.
• The test eliminates the need for confirmatory genetic testing in the significant proportion of Alzheimer’s patients who do not carry the ApoE4 variant.

Roche (SIX: RO, ROG; OTCQX: RHHBY) announced today that it has received CE Mark approval for its Elecsys® Apolipoprotein E4 biomarker test – the first in-vitro diagnostic (IVD) immunoassay to identify the presence of the ApoE4 gene variant in the bloodstream. 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.¹ Alzheimer’s disease accounts for up to 70% of dementia cases worldwide² and is predicted to affect almost 150 million people by 2050.³

Until now, confirming ApoE4 carrier status in Alzheimer’s patients has relied on molecular  DNA testing. The Elecsys ApoE4 test offers a simple, fast and reliable option, using a minimally-invasive blood sample, to identify whether an individual carries the ApoE4 variant. This allows reliable and efficient filtering of non-carriers, reserving genetic testing for patients who need it most. For those identified as carriers, follow-up genetic testing can confirm their status and provide more detailed insights. This will be essential as the use of current disease-modifying therapies (DMTs) is influenced by a patient’s genetic profile.

“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.”

The Elecsys ApoE4 test works alongside Roche’s other blood-based Alzheimer’s disease biomarkers, including the recently CE-marked Elecsys pTau181 test, which is designed to assess the presence of key proteins associated with Alzheimer’s disease. Together, these biomarkers provide valuable insights across the diagnostic journey, helping clinicians detect the disease earlier and make informed decisions about patient care after diagnosis. With only a single blood sample needed, the Elecsys ApoE4 can be integrated seamlessly and efficiently into the diagnostic process. Broad access to testing will exist through the large number of Roche instruments currently available in countries accepting the CE mark, providing a scalable plasma-based solution to support the Alzheimer’s diagnostic pathway.

ApoE4 is recognised by the 2024 Alzheimer’s Association criteria⁴ and International Working Group⁵ 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.^6,7 The ApoE4 gene variant is associated with an increased risk of late-onset Alzheimer’s disease in adults over 65 years old, in more than 95% of cases.

Elecsys ApoE4 is an in vitro immunoassay for the qualitative determination of the Apolipoprotein E4 in human plasma. The test result is intended to determine ApoE4 carrier status (carrier or non-carrier) in adults with signs and symptoms of cognitive impairment. Identifying carrier status has gained increased clinical importance in the context of DMTs. This is because ApoE4 carriers, particularly those who have inherited two identical copies of the gene (i.e. one from each parent), 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.^8-10

The clinical performance of the assay was assessed in a prospective multicenter study¹¹ involving 607 participants with cognitive complaints or objective memory impairment of unknown aetiology. The Elecsys ApoE4 results were compared with APOE4 genotyping performed by Sanger bidirectional sequencing. The assay demonstrated 100% concordance between ApoE4p and genetic APOE4 status, correctly identifying all genetic carriers and non-carriers.

The approval of Roche’s ApoE4 biomarker test is a crucial step in Roche’s broader commitment to transforming care in Alzheimer’s disease and neurology. Building on the recent CE mark approval of Roche’s Elecsys pTau181 test – a blood test to rule out Alzheimer’s associated amyloid pathology, a hallmark of Alzheimer’s disease – the ApoE4 test further demonstrates the power of biomarkers to revolutionise diagnosis and treatment. Together with tools like a pTau217 biomarker test, which is expected to play an important role in Alzheimer’s care in the future, these solutions exemplify Roche’s dedication to advancing earlier and more accurate identification of the disease and preparing healthcare systems for a new era of disease-modifying therapies.

Roche’s unique position as a leader in both pharmaceuticals and diagnostics enables a comprehensive approach to supporting patients across every stage of their journey. From advanced diagnostic tools that enable earlier detection to innovative therapies, Roche is enabling personalised care for patients with Alzheimer’s disease. This commitment is underpinned by a vision of transforming outcomes in Alzheimer’s disease, creating a path toward new standards of care that can change the lives of patients and their families.

Founded in 1896 in Basel, Switzerland, as one of the first industrial manufacturers of branded medicines, Roche has grown into the world’s largest biotechnology company and the global leader in in-vitro diagnostics. The company pursues scientific excellence to discover and develop medicines and diagnostics for improving and saving the lives of people around the world. We are a pioneer in personalised healthcare and want to further transform how healthcare is delivered to have an even greater impact. To provide the best care for each person we partner with many stakeholders and combine our strengths in Diagnostics and Pharma with data insights from the clinical practice.

In recognising our endeavor to pursue a long-term perspective in all we do, Roche has been named one of the most sustainable companies in the pharmaceuticals industry by the Dow Jones Sustainability Indices for the thirteenth consecutive year. This distinction also reflects our efforts to improve access to healthcare together with local partners in every country we work. 

Genentech, in the United States, is a wholly owned member of the Roche Group. Roche is the majority shareholder in Chugai Pharmaceutical, Japan. 

For more information, please visit www.roche.com.