Roche has announced 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.
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 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. 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.
The clinical performance of the assay was assessed in a prospective multicentre study 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.