Haemochromatosis genotype
- Description
- Hereditary haemochromatosis (HH) is an adult-onset disorder characterized by inappropriately high absorption of iron by the gastrointestinal mucosa, resulting in excessive storage of iron, particularly in the liver, pancreas, heart, joints, and testes. The diagnosis of HH in individuals with clinical symptoms consistent with HH and /or biochemical evidence of iron overload is typically based on screening serum transferrin-iron saturation (>45%) and serum ferritin concentration (>/=300µg/L men, >/=200µg/L women) and on confirmatory tests such as histologic assessment of hepatic iron stores on liver biopsy and/or molecular genetic testing for the C282Y and H63D variants in the HFE gene. HH genotyping is offered as a real-time Taqman assay for the C282Y and H63D variants.
- Clinical details
- Factors affecting results or interpretation: Presence of heparin anticoagulant will inhibit PCR applications. Clotted samples are unsuitable for DNA analysis. Samples must be clearly labelled with the patients first name, surname, D.O.B, hospital number and the date the sample was taken. The details on the sample must correspond to the request form. Unlabelled samples will not be accepted.
- Testing site
- Synnovis : Genomics : King's College Hospital
- Sample type and volume required
- Volume of blood anticoagulated with EDTA: Adult and children 4 ml, Infants (0-2 years) 1 ml Clotted samples are unsuitable for DNA analysis. Blood Samples in in correct anticoagulant tubes may be rejected. We accept DNA samples. Please provide at least 1-5µg of purified DNA
- Storage and transport
- Blood should be stored at 4°C where possible. Send at room temperature by first class post. If possible, please complete the request form attached and send as a hard copy (do not send electronically) with the sample. This will ensure all relevant information is available and will aid us in processing your test.
- Turnaround time
- 10 working days
- Time limit for extra tests
- 5 years
- Contacts
Specialist Red Cell Laboratory
Phone – 020 4591 0045
Synnovis Hub
Floor 2
Friars Bridge Court
41-43 Blackfriars Road
London SE1 8NZ