Test Directory

Variants tested:

• e2 allele (cysteine at codons 130 and 176)
• e3 allele (cysteine at codon 130, arginine at codon 176)
• e4 allele (arginine at codons 130 and 176)

Used to assess risk of amyloid-related imaging abnormalities (ARIA) when prescribing amyloid-targeted antibody therapies (e.g., lecanemab, donanemab). Supports the clinical diagnosis of Alzheimer’s disease (AD) in symptomatic individuals. APOE genotyping may be used for risk assessment, but results have limited clinical utility because APOE status alone does not establish or exclude a diagnosis of AD. Pre- and post-test genetic counseling is strongly recommended.

Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Alternate Collection Container: Pink Top (EDTA) or Pale Yellow (ACD solution A or B)

Desired Specimen Volume: 3 mL

1. Collect a lavender top (EDTA) tube via venipuncture.
2. Fill tube to capacity with whole blood.

An INFORMED CONSENT FOR GENETIC TESTING waiver is requested, but not required to be sent with the sample.

1. Transport 3 mL of whole blood in the original collection container.
2. Genetic counseling and informed consent are strongly recommended both before ordering and posttest to discuss results.
3. Consent form is only mandatory for NY state patients.

Transport to the laboratory refrigerated. 

• Frozen specimens in glass collection tubes.

See patient report.

The presence of one or more APOE e4 alleles is considered a risk factor but is not diagnostic for AD.

Only the APOE alleles e2, e3, and e4 will be detected; other APOE alleles and variants in other genes associated with AD are not analyzed.

Diagnostic errors can occur due to rare sequence variations.

Testing of fetal specimens or specimens from patients under the age of 18 years is not offered.

• Apolipoprotein E (APOE) Genotyping, Alzheimer Disease
• APOE E4