Accessibility links
|
|
HFE Gene Mutation Detection
(a.k.a Haemochromatosis)
minimum sample volume required ~ 4ml
Test Code: HFE
Special instructions
Haemochromatosis screen requires 2 x 3ml ETDA - exclusively for HFE testing, if any other tests are required, please send additional EDTA samples.
Samples must be received in the lab within three days of collection.
Sample must be sent with the appropriate referral form (filled out in full) to be processed (linked below).
Sent away
to Exeter Genomics Laboratory
Linked to
Haemochromatosis Screen
Turnaround Time
21
days
Department: Haematology
Clinical Application
Referrals are usually via the local haematology department or consultant specialists.
Referrals from GP's are accepted provided it is clearly demonstrated in the clinical details that the eligibility criteria is met.
Suggested biochemical criteria include elevated, fasting, serum transferrin saturation and persistently raised serum ferritin concentration.
Due to incomplete penetrance of the disease, homozygosity for p.C282Y is not sufficient to diagnose haemochromatosis and this has important implications for molecular genetic diagnostic practices. Please refer to Exeter Genomics Latoratory website for acceptance criteria and test scenarios: https://www.exeterlaboratory.com/genetics/haemochromatosis
Links:
» Referral form
» GPs Quick Guide to Genetic Haemochromatosis
