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Haemochromatosis
Short Description : Hereditary Haemochromatosis genetic testing
Also known as : [C282Y],[H63D],[S65C]

DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Haematology

Specimen Collection

Note: All samples should be forwarded to LabPlus at room temperature within 24hours.

Note: If an analysis of the H63D and S65C HFE mutations is required, and the patient has already been analysed for the C282Y HFE mutation by this lab, we may already have a suitable specimen for testing. This may mean that it is not necessary to take a new blood sample for this test. Please call the lab and discuss this with a scientist.


CPD

4 mL CPD Blood (Preferred)

EDTA

4 mL EDTA Blood
Turnaround Time: Within 2 weeks, 4 days
Diagnostic Use and Interpretation

Results from this test can be used to establish hereditary Haemochromatosis as a cause for sustained iron overload.


Contact Information

To contact the Molecular Haematology team please call:

Auckland City Hospital (09) 307 4949
Lablink ext 22000
Prof. Peter Browett (Haematologist) ext 9090-86281
Dr. Imogen Caldwell (Haematologist) ext 22006
Nikhil Ghallayan (Section Leader) ext 22005
Molecular Haematology Office ext 22005

For more information about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page



Information on Haemochromatosis Mutation Analysis:

Approximately 90% of patients diagnosed with classical hereditary haemochromatosis appear to be homozygous for a mutation in an MHC class I like gene termed HFE (formerly HLA-H) which changes cysteine 282 to a tyrosine. Two further mutations (H63D & S65C) have been reported to be associated with more mild forms of haemochromatosis, although the functional significance of S65C is yet to be determined. Compound heterozygotes with both the C282Y and H63D have been associated with iron overload.


Last updated at 15:36:59 07/03/2024