Request / Find a Test Tool

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.

Iron metabolism disorders – NOT common HFE mutations

Clinical Indication ID & Name

R96

Iron metabolism disorders - NOT common HFE mutations

Test Group

Haematology

Test code

R96.1

Test name

N/A

Target genes

Iron metabolism disorders (515)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Iron overload (with raised transferrin saturation and/or serum ferritin) or features of other disorders of iron metabolism in which common HFE mutations have been excluded or are unlikely

Test code

R96.2

Test name

N/A

Target genes

HFE;SLC40A1;TFR2;HFE2;HAMP;ATP7B

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Iron overload (with raised transferrin saturation and/or serum ferritin) or features of other disorders of iron metabolism in which common HFE mutations have been excluded or are unlikely

Commissioning group

Specialised

Overlapping idications

• R95 Iron overload - hereditary haemochromatosis testing should be used where hereditary haemochromatosis due to common HFE mutations is likely

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

n/a

Education resources

n/a

Service updates

n/a

Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form