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Department

Haematology

Preferred Sample Type

Haemochromatosis Gene (HFE)

Suitable Specimen Types

  • EDTA Whole Blood
3mL

Specimen Transport

Standard transport to laboratory

Sample Processing in Laboratory

DNA extracted from EDTA or sodium citrate whole blood

Sample Preparation

None

Turnaround Time

14 days (excluding weekends)

Sample Stability

4°C for 28 days

Haemochromatosis Gene (HFE)

General Information

C282Y and H63D mutations are associated with an increased risk of hereditary haemochromatosis although the role of H63D remains unclear.

For mutation nomenclature update see here

Link to molecular pages

Notes

*Blood or Bone Marrow samples are suitable

Specifications

  • EQA Scheme?: Yes
  • EQA Status: NEQAS