Genetic Haemochromatosis

A genetic test assessing three common variants in the HFE gene associated with hereditary haemochromatosis, a condition that can lead to excess iron absorption.

Results usually available within 2-3 weeks after the laboratory receives your sample

What does it check?

  • HFE C282Y variant
  • HFE H63D variant
  • HFE S65C variant

Who may benefit?

Individuals with elevated serum ferritin or transferrin saturation on routine blood tests, unexplained fatigue, joint pain, liver enzyme elevations, or a family history of hereditary haemochromatosis.

Genetic Haemochromatosis

SMITHS
Medical Group

What is it?

A genetic test assessing three common variants in the HFE gene associated with hereditary haemochromatosis, a condition that can lead to excess iron absorption.

Who may benefit?

Individuals with elevated serum ferritin or transferrin saturation on routine blood tests, unexplained fatigue, joint pain, liver enzyme elevations, or a family history of hereditary haemochromatosis.

Comprehensive gene panel
HFE C282Y variant
HFE H63D variant
HFE S65C variant

Important information

Hereditary haemochromatosis is an autosomal recessive disorder. Possessing mutations indicates risk of iron accumulation, but clinical penetrance varies. Regular monitoring of iron levels and medical supervision is recommended.