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Cytogenetics and Related Medical Genetics Essentials

​Cytogenetics and Related Medical Genetics Essentials Ordering Approvals

Gastroenterologists and Hematologists

Lab Tests

  • Hereditary Hemochromatosis (HH) HFE Gene Testing
    • Diagnostic testing for HH due to the HFE gene should be offered to patients who have an unexplained serum ferritin:
      • Serum ferritin greater than 600ug/L, or 
      • Males: Transferrin saturation less than 45% and serum ferritin less than 300ug/L 
      • Females: Transferrin saturation less than 45% and serum ferritin less than 200ug/L
    • Fasting samples are preferred
    • Please ensure that clinical data is included on the testing requisition
    • Unaffected family members must be referred for genetic counselling/testing
      • Please note that we do not offer testing to family members if only the H63D gene mutation is found
Last Modified: Friday, October 26, 2018 |
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