Haemachromatosis gene screen
Hereditary haemochromatosis is an autosomal recessive disease with estimated prevalence in the population of 2 in 1,000 in Caucasians, and lower incidence in other races. Hereditary haemochromatosis is characterised by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues, that typically begins to be expressed in the third to fifth decades of life, but may also occur in children. Because of the severe sequelae of this disease if left untreated, and recognising that treatment is relatively simple (ie. phlebotomy and/or chelation therapy), early diagnosis before symptoms or signs appear is important.
The most common presentation is hepatic cirrhosis in combination with hypopituitarism, cardiomyopathy, diabetes, arthritis or hyperpigmentation.
Also increased transferrin saturation of >50 % (see iron studies).
Genetic counselling may be indicated. Not currently performed in house; this test is referred to the North East Thames Regional Genetics Service Laboratory (Great Ormond Street Hospital).
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Record last updated
October 1, 2025
Sample Container
4ml EDTA Vacutainers (Lavender top)
Sample Container
6ml Lithium Heparin (Green 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.
Phlebotomy services are not managed by NWLP. For further information please see:
Imperial College Healthcare Trust Phlebotomy services
Chelsea and Westminster Hospital NHS Foundation Trust Phlebotomy services
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.
UKAS accredited medical laboratory/medical diagnostic service:
- Clinical Biochemistry No. 8673
- Haematology and Blood Transfusion No. 8674
- Infection & Immunity Sciences (Including Immunology, Virology, Microbiology and Histocompatibility and Immunogenetics ) No. 8659
- Cellular Pathology (Including Histopathology, Cytology and Molecular Pathology) No. 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 Guide, BD 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.
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