Haemochromatosis | Genomic Diagnostics

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