Apo E Genotype

Description: 
Analysis of Apo E gene for three common alleles (e2, e3, e4) encoding 3 protein isoforms (E2, E3, E4) differing at amino acid positions 112 and 158.
Clinical details: 
The E2 isoform binds the lipoprotein receptors with only 2 percent of the affinity of E3 and E4 resulting in impaired clearance of chylomicron and VLDL remnants and increased plasma cholesterol and triglyceride levels. 
Allele frequencies
e2 – 10% e3 – 75% e4 – 15%
Homozygosity e2 – 1% of Caucasians
ApoE e3 is the wild-type allele.
ApoE e2/e2 – strong association with HLP III
Related condition or disease: 
Type III hyperlipoproteinemia / Hypercholesterolaemia.
Possible risk factor for CHD and arterial thrombosis.
Associated with Altzheimer disease risk.
Reference range: 

n/a

Synonyms or keywords: 
Apo E genotype Apolipoprotein E Type III hyperlipoproteinemia.
Units: 
n/a
Department: 
Haemostasis and Thrombosis Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
1 x Edta
Call in advance: 
no
Turnaround time: 
14 days
Criteria for acceptance / rejections of sample
Storage and transport: 
transport at ambient temperature
Contacts:
Molecular Haemostasis Laboratory at St Thomas'
020 7188 2798
Haemostasis and Thrombosis
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH

Laboratory opening times
Monday - Friday 09.00 - 17.00
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Molecular Haemostasis Laboratory at St Thomas'

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Last updated: 14/03/2017