Haemochromatosis (HFE gene) Mutations

Description: 
Polymerase Chain Reaction (PCR) based assays to determine the C282Y and H63D mutations in the HFE gene
Clinical details: 
The iron storage disorder hereditary hemochromatosis (HH) is an autosomal recessive genetic disorder that usually results from defects in this gene. 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.
Reference range: 

none

Synonyms or keywords: 
HFE
Units: 
none
Sample type and Volume required: 
10ml EDTA blood
Call in advance: 
No
Turnaround time: 
2 weeks
Special sample instructions: 

none

Storage and transport: 
UN3373 packaging
Time limit for extra tests: 
none
Contacts:
Clinical Transplantation Department at Guy's Hospital
Laboratory Enquiry: 020 7188 1540
Clinical Transplantation Department
Guy's Hospital
Borough Wing - 3rd Floor
Great Maze Pond
London SE1 9RT
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015