The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Clinical Indication ID & Name

R95

Iron overload - hereditary haemochromatosis testing

Test Group

Core

Specialties

Cardiology Clinical Genetics Haematology Hepatology Primary Care

Test code

R95.1

Test name

N/A

Target genes

HFE common variants

Test scope

n/a

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Unexplained iron overload (with raised transferrin saturation and/or serum ferritin) suggestive of hereditary haemochromatosis

Commissioning group

Core

Overlapping idications

• R96 Iron metabolism disorders - not common HFE mutations should be used instead where hereditary haemochromatosis is not the likely diagnosis, or HFE common mutations have already been tested for

Address for samples/request forms

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool