Clinical Indication ID & Name
Iron metabolism disorders - NOT common HFE mutations
Test Group
Haematology
Specialties
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
Supporting documents
Rare Disese WGS Clinician pack
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