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
SYNNOVIS ANALYTICS MOLECULAR PATHOLOGY LABORATORY
Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,
London,
SE5 9RS
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old