Apolipoprotein E Genotyping
Chemical Pathology
Notes
Apolipoprotein E (Apo E) genotyping is sometimes requested when a patient has significantly elevated cholesterol and triglyceride concentrations, when a patient presents with xanthomas on their skin and the doctor suspects Type III hyperlipoproteinaemia (also known as dysbetalipoproteinaemia, remnant disease or broad beta disease); or very rarely when family members have apo E e2/e2 and a doctor wants to see if the patient may be at a higher risk for early heart disease.
Patients with The Apo E e2/e2 genotype are at a higher risk of premature vascular disease, however, only 1 in 50 people with this geneotype will ever develop the disease.
Genotyping provides additional information and, if symptoms are present, e2/e2 is diagnostic of Type III hyperlipoproteinaemia (although diagnosis must be made in conjunction with other test results and the patient’s clinical history).
Please note: Apolipoprotein E requests are available to GHNHSFT lipid clinic consultants only and any queries should be referred to them.
Sample requirements
For adults, 4 ml of blood taken into an EDTA tube.
Storage/transport
Send at ambient temperature to the laboratory. If unavoidable, samples can be stored refrigerated overnight.
Required information
Relevant clinical details including the reason for the request, fasting state, any family history, current lipid medication and date of sample.
Turnaround times
Samples are sent for analysis to Guy's and St Thomas' Hospital, London. Results are expected back within 3 weeks.
Reference ranges
Interpretive comment provided with the report.
Further information
https://patient.info/doctor/apolipoproteins
Page last updated: 04/08/2023