Description

The Hemochromatosis (HFE) PCR test detects specific genetic mutations in the HFE gene that are associated with hereditary hemochromatosis. This condition causes the body to absorb and store excess iron, which can accumulate in organs such as the liver, heart, and pancreas, potentially leading to liver disease, diabetes, heart problems, and arthritis if left untreated.

Why Test for HFE Mutations?

  • Identify inherited risk for iron overload before symptoms develop
  • Guide early intervention to prevent organ damage through phlebotomy or other treatments
  • Help diagnose unexplained iron abnormalities, such as elevated serum ferritin or transferrin saturation
  • Provide important information for family members who may also be at risk

How Is the Test Performed?

  • A blood sample is collected for DNA analysis
  • The test looks for common mutations in the HFE gene, including C282Y and H63D, using Polymerase Chain Reaction (PCR) technology

Who Should Consider Testing?

  • Individuals with elevated iron levels on routine bloodwork
  • Patients with a family history of hemochromatosis or iron overload
  • Those experiencing symptoms such as fatigue, joint pain, abdominal pain, or unexplained liver abnormalities
  • People of Northern European descent, who have a higher prevalence of HFE mutations

Turnaround Time

  • Results are typically available within 7–10 business days

Fasting not required.