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Haemochromatosis (HFE) genotyping


Haemochromatosis (HFE) genotyping
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Turnaround Time:

10 working days


Hereditary haemochromatosis (HH) is a genetic disease characterised by iron overload, leading to multi organ failure. The most prevalent genotype in HH is homozygosity for the C282Y mutation of the HFE gene with two additional mutations; H63D and S65C, being associated with a milder form of HH. HFE enotyping for all three mutations is carried out using allelic discrimination by real time PCR.

Sample Requirements:

4ml blood in EDTA (purple top) Vacuette.



How result is reported:

Results that are not distributed digitally will be posted to the address provided on the request.



Transportation and Handling:

Specimens in transit should comply with UN3373 under ADR (The European agreement concerning the international carriage of dangerous goods by road)

Time limits for requesting additional examinations:

Within one month of submission of sample