Hemochromatosis (HFE-HH) – RRPL
Discipline
Genetics and Genomics
Overview
Description
Ordering recommendations
- Hemochromatosis genotyping is available for individuals with evidence of iron overload with elevated transferrin saturation (TS) (>45%) AND elevated serum ferritin (SF) (>300μg/L in men and post-menopausal women, or >200μg/L in pre-menopausal women) or unexplained SF >600μg/L. Repeat testing of TS >45% greater than 1 month apart and consistently elevated SF (but not reaching cut-off) is also eligible for HFE-associated hereditary hemochromatosis genotyping. Testing solely on family history is not appropriate. For example, testing is NOT recommended for first-degree relatives (parents, siblings and children) of individuals identified to be heterozygous for C282Y (whether C282Y/wild type or C282Y/H63D) unless they first demonstrate hyperferritinemia and a TSAT ≥45%.
Ordering requirements
- Use the Molecular Diagnostics Requisition
- This test is available to all physicians in the care of patients with demonstrated iron overload meeting testing criteria.
Alias
- HFE, HH
Specimen Information
Specimen types accepted
- Whole blood: Lavender (EDTA) 4.0 mL
Specimen collection container
- Preferred collection container: Lavender (EDTA) 4.0 mL
- Alternative collection container: Microcollection - EDTA
Required volume
- Optimal volume: 8 mL
- Minimum volume: 0.5 mL
- Pediatric volume: 0.5 – 3 mL
EDTA tubes should be completely full, 2/3 full at minimum, testing may be affected by partial draw
- For patients over 20 kg: 2 EDTA tubes each containing 3.0 mL of blood
- For patients up to 20 kg: 2 EDTA tubes each containing 2.0 mL of blood
Transport and stability
- Specimen specific storage and transport instructions (ex. Frozen, ship on ice, temperature specification)
- Room temperature: if being shipped on same day of collection (preferred).
- Refrigerated: If shipping is delayed
Performance
Methodology
-
Purpose of test (brief): Hemochromatosis genotyping is limited to individuals with an elevated ferritin and transferrin saturation greater than 45% (TSat).
- How testing is performed: Analysis for the HFE p.Cys282Tyr (C282Y) and p.His63Asp (H63D) variants are performed concurrently with p.His63Asp reported only if the patient carries one copy of the p.Cys282 Tyr allele. No other genetic variants of the HFE gene or any other gene will be detected by the assays performed.
- Clinical result interpretations: Interpretation provided on report.
Specimen retention time
- For more information, please visit the RRPL Requisitions and Completion Aids page.
Last Updated: April 2, 2024