Haemochromatosis Genotyping
Biochemistry Overview / Directory
Purpose of the test
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, H63D, and S65C mutations in the HFE gene.
HH genotyping is offered as a real-time Taqman assay for the C282Y, H63D and S65C mutations.
Sample Requirements
EDTA whole blood (5 mL for adults, 1-2 mL for paediatric samples).
Storage and Transport
1st class post
Turnaround Time
10 working days
Price
On application (discounts could be available for significant workload)
Contacts
Barnaby Clark
Tel: 020 3299 2265
Fax: 020 3299 1035
