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.
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
Turnaround time: 
10 working days
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.
Time limit for extra tests: 
5 years
Contacts:
Red Cell Centre - Molecular Diagnostics Laboratory
020 3299 1246 / 2265
kch-tr.pnd@nhs.net
c/o Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS
Mon-Fri, 9.00am-5.30pm
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 15/01/2020