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
- Reference range
n/a
- Units
- n/a
- Synonyms
- Apo E genotype Apolipoprotein E Type III hyperlipoproteinemia.
- Testing site
- Synnovis : Blood Sciences : St Thomas' Hospital
- Laboratory
- Molecular Haemostasis
- Sample type and volume required
- 1 x Edta
- Call in advance
- no
- Storage and transport
- transport at ambient temperature
- Turnaround time
- 14 days
- Contacts
Molecular Haemostasis Laboratory at St Thomas’ Hospital
Phone: 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