Test description
Hereditary haemochromatosis is a common inherited disorder in which excessive iron is absorbed. Genetic predisposition leads to disease in some but not all cases.
Test information
Test name
Haemochromatosis Genotype
Clinical indication
- The investigation of repeatedly elevated transferrin saturation or ferritin levels,
- The differential diagnosis of a patient with symptoms suggestive of hereditary haemochromatosis, in whom persistent elevation of plasma iron has been proven,
- Hereditary haemochromatosis risk assessment of a first degree relative of a person with a known HFE gene mutation.
Gene(s)
HFE (C282Y, H63D, and S65C variants only)
Method
PCR Genotyping
Turn around time
1 week
Medicare eligibility
73317 – criteria apply
Price
If not MBS eligible please contact 1800 822 999 for details
Test request form
Standard pathology request form
Sample type
Blood
Collection type
6mL EDTA tube
Special instructions
None