ApoE genotyping
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.
For prognostic testing in coronary heart disease, type III hyperlipoproteinaemia and strokes.
The laboratory is not UKAS accredited for this test.
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.
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Imperial College Healthcare Trust Phlebotomy services
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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
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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).
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Home testing
INSTRUCTION SHEET FOR BLOOD SAMPLE COLLECTION
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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