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ApoE genotyping

Test Background

Apolipoprotein E (ApoE) has a pivotal role in the metabolism of VLDL-cholesterol, and HDL-cholesterol, and as a ligand, it binds both LDL-cholesterol and ApoE receptors. The APOE gene is located on chromosome 19q13.2 and has 3 main allelic variants: ε3, ε4, andε2. ε3 is the most common, followed by ε4 and ε2. These 3 allelic variants differ at 2 single-base variations located in exon 4 at codon positions 130 and 176 (Historically described as positions 112 and 158).

The single nucleotide changes of APOE c.388T>C p.(Cys130Arg) (112T>C) (SNP: rs429358) and APOE c.526C>T p.(Arg176Cys) (158C>T) (SNP: rs7412) encode Cys and Arg, respectively. ε2 has a T at both positions 112 and 158; ε3 has one T and one C at either position 112 and 158;and ε4 has a C at both positions.

These isoforms have been widely studied as possible risk factors for coronary heart disease, type III hyperlipoproteinaemia and strokes.

A real time fluorescence PCR genotyping assay is used to determine the presence of the APOE 112T>C and 158C>T variants and haplotype.

Click here to download the SIHMDS request form

Clinical Indications

For prognostic testing in coronary heart disease, type III hyperlipoproteinaemia and strokes.

Turnaround time
14 calendar days
Sample & Container Required
4ml Peripheral Blood in EDTA (lavender/purple top)
Notes

The laboratory is not UKAS accredited for this test.

Accreditation

This test is not currently accredited

Record last updated
October 21, 2025

Sample Container

4ml EDTA Vacutainers (Lavender top)

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Test Results

Yes, we have a Pathology User Guide

Yes. Please email your request to Imperial.nwlpcustomerservice@nhs.net

Results are communicated to clinical staff and are normally not communicated direct to patients either on telephone requests or in written report. If you need to contact us please click here to view the contact details page

Please contact the Customer Service Team Monday to Friday from 8:30am – 6:00pm on 0203 313 5353. Alternatively, see the Pathology User Guide for how to contact the relevant department. If advice is not urgent you can also email your query to Imperial.nwlpcustomerservice@nhs.net

Additional tests may be added by discussion with the relevant laboratory. The time limit for adding additional tests to a sample already received in the laboratory will depend on the type of sample and the department it was sent to.

Information on the repertoire of tests performed by pathology, including reference ranges, turnaround times and specimen requirements, can be found in the test directory.

NWLP operates UKAS accredited medical laboratories as per the references below. The current scope of accreditation for all NWLP’s laboratories can be found on the UKAS website.

See the following UKAS ref numbers:

  • Clinical Biochemistry Ref: 8673
  • Haematology and Blood Transfusion Ref: 8674
  • Infection & Immunity Sciences (Including Immunology, Virology, Microbiology and Histocompatibility and Immunogenetics ) Ref: 8659
  • Cellular Pathology (Including Histopathology, Cytology and Molecular Pathology) Ref: 9615

If you require copies of our certificate of accreditation and associated documentation please contact Imperial.nwlpcustomerservice@nhs.net.

UKAS requires the laboratories to be accredited for a particular repertoire/scope (ISO15189), any changes or additions to repertoire require assessment by UKAS (extension to scope).

The BD Hospital Tube GuideBD GP Tube Guide and BD Paediatric Tube Guide provide visual references to the correct tube types and collection instructions.

Home testing

INSTRUCTION SHEET FOR BLOOD SAMPLE COLLECTION 

We also have two instruction videos available (one with subtitles and one without) – please click on the links to view the videos on Google.

VIDEO ON BLOOD SAMPLE COLLECTION (without subtitles)

VIDEO ON BLOOD SAMPLE COLLECTION (with subtitles)

Our accreditations

Upholding excellence in diagnostic standards

Our laboratories are accredited by the UK Accreditation Service (UKAS) against the international standard ISO15189:2022. UKAS is the accreditation body for the UK that assesses medical laboratories.

Find out more about our accreditations on the UKAS website.

UKAS website
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