Hereditary Haemochromatosis (HFE gene) Mutation Detection

Used to differentiate causes of high ferritin and high transferrin saturation.

Also used to differentiate iron overload that is alcohol-related, due to ineffective erythropoiesis (thalassaemia and sideroblastic anaemia) or porphyria cutanea tarda from patients with hereditary haemochromatosis gene mutations at C282Y and H63D. S65C also tested.

Use in first degree relatives of those with family history of haemochromatosis or specific gene mutation (C282Y /C282Y and C282Y/H63D)

Sample: EDTA
Eligible for Medicare rebate if patient has elevated transferrin saturation or ferritin on repeat testing or patient has a first degree relative with haemochromatosis or first degree relative with homozygosity for C282Y or compound heterozygote C282Y/H63D.

 

Test Hereditary Haemochromatosis (HFE gene) Mutation Detection
Gene  
Disease  
Method  
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Required Documents
(Downloadable documents are supplied within each kit dispatched)
  1. Patient Informed Consent Form: Adult
  2. Patient Informed Consent Form: Guardian
  3. Physician Test Request Form
  4. Payment Form (private patients only)
  5. Customs Declaration Form (international patients only)
  6. Import Permit Blood/DNA/Tissue (international patients only)
  7. Import Permit Buccal Swab (international patients only)
Price Please contact us here about private, public and contractual pricing arrangements
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