Haemochromatosis genetics

National Genomic Test Directory reference: R95 Iron overload - hereditary haemochromatosis testing.

May be requested by specialists in: Cardiology, Clinical Genetics, Haematology, Hepatology, Primary Care. _{(Source: National Genomic Test Directory. Testing Criteria for Rare and Inherited Disease, v7 July 2024)}

Alternative names, keywords

HFE genotyping

Samples required

2x EDTA blood (purple cap/ yellow cap ring, 4 mL tube).

Tested by South East Genomic Laboratory Hub. Specimen will not be accepted by referral lab unless correctly labelled and accompanied by a fully completed request form. Please download a copy of the correct form here.

Note - the South East Genomic Laboratory Hub website is currently stating "This test is no longer commissioned by NHS England. This means it is not available to order. Please see M118". We have confirmed with the laboratory which analyses the samples that this is an error and that HFE testing continues to be available.

If you are sending an electronic request form direct to one of the genetics provider labs, please note a paper copy is still required with the sample so that handling laboratories can process it correctly.

All genetic testing requires consent. It is the responsibility of the referring clinician to obtain appropriate consent from the patient for genetic testing. This should be saved in local patient records and does not need to be sent with the request form. The SE-GLH Record of Discussion form can be downloaded alongside the relevant request form.

Test indications

Suspected haemochromatosis. For full eligibility criteria see National Genomic Test Directory.

Reference range

See report. Please note results are returned direct to requesting clinician and not via laboratory.

Turnaround time

See referral laboratory's information.

Enquiries

Biochemistry (Referrals)