Description:
<jats:title>Abstract</jats:title><jats:p>The allele ε4 of the apolipoprotein E gene (<jats:italic>APOE</jats:italic> ε4) is the major genetic risk factor for non-dominantly inherited Alzheimer’s Disease (AD). Current techniques for <jats:italic>APOE</jats:italic> ε4 carriers identification show good accuracy but have several disadvantages that limit its implementation in a clinical laboratory. These include the need for sample preprocessing, poor automation, low throughput, requirement of additional equipment, and high cost. We followed ISO 13485 guidelines to validate the <jats:italic>e</jats:italic>4<jats:italic>Risk test</jats:italic>, a new latex-enhanced immunoturbidimetric blood assay for apolipoprotein E4 (ApoE4) determination in human plasma samples. The test showed high performance in terms of lot to lot variability, precision, interferences, reagents stability, prozone, and detectability. Furthermore, diagnostic accuracy is almost equal (99%) to the gold standard, <jats:italic>APOE</jats:italic> ε4 genotyping by polymerase chain reaction (PCR). Furthermore, we demonstrated that the <jats:italic>e</jats:italic>4<jats:italic>Risk test</jats:italic> can be adapted to any clinical chemistry analyzer, including the high throughput analyzers present in most hospitals and clinical laboratories. The <jats:italic>e4Risk test</jats:italic> versatility, low cost, and easiness provides an excellent solution for <jats:italic>APOE</jats:italic> ε4 carriers identification using the same blood sample drawn for biochemical diagnostic work-up of AD patients, which can have important advantages for patient stratification in clinical trials, preventative strategies for AD, and clinical assessment of risk for brain amyloidosis.</jats:p>