Clinical Indication ID & Name
Iron overload - hereditary haemochromatosis testing
Test Group
Core
Specialties
Test code
R95.1
Test name
N/A
Target genes
HFE common variants
Test scope
n/a
Test method/ technology
Targeted variant 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 variants should be used instead where hereditary haemochromatosis is not the likely diagnosis, or HFE common variants have already been tested for Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family
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
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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