Scheme Description
The HFE gene is associated with hereditary haemochromatosis. Two mis-sense mutations in the HFE gene, a cysteine282tyrosine (C282Y) rs1800562, NG_008720.2:g.10633G>A; NM_000410.3:c.845G>A; NP_000401.1:p.Cys282Tyr and a histidine63aspartic acid (H63D) (rs1799945, NG_008720.2:g.8671C>G; NM_000410.3:c.187C>G; NP_000401.1:p.His63Asp), have both been shown to be associated with the development of disease. Other HFE mutations have also been associated with haemochromatosis.
Purpose
To assess participants’ ability to correctly determine HFE mutations.
Samples
A total of ten blood samples will be sent each year as three distributions. Participants will receive three blood samples in the first shipment, four samples the second shipment and three samples in the final shipment.
Reporting
Participants may register to have the H63D (Hist63Asp) mutation, C282Y (Cys282Tyr) mutation and S65C (Ser65Cys) mutation of the HFE gene assessed.
Participants are requested to report any other HFE gene mutations that they detect for participant information purposes.
Participants must only use the reporting forms provided within the UK NEQAS for H&I Participant’s Portal and are required to return results within 2 weeks.
Assessment
The consensus HFE mutations for assessment are determined by at least 75% of laboratories agreeing the mutations. A reference result will be used for assessment for samples failing to reach the 75% consensus level.
Assessment Procedure
Each sample report in agreement with the consensus/reference H63D and C282Y and S65C genotype – Acceptable
Each sample report not in agreement with the consensus/reference H63D and C282Y and S65C genotype – Unacceptable
Each sample/registered genotype not reported – with valid reason – Not Assessed
Each sample/ registered genotype not reported / late submission – Unacceptable
Satisfactory Performance
Satisfactory performance is making ten sample reports in full agreement with the consensus/reference H63D and C282Y and S65C genotypes (if applicable) in a year.
Laboratories with unsatisfactory performance will receive written notification of their status and will be expected to reply to UK NEQAS for H&I detailing their corrective actions. For UK laboratories, unsatisfactory performance will be reported to UK NQAAP for Immunology. For UK laboratories, failure to reply or replies deemed unsatisfactory are likely to be further actioned by UK NQAAP for Immunology.
Information/Analysis Provided to Participants
- Anonymised summary table of all participant results, comments and methodology. Including sample assessment result (acceptable/unacceptable classification) for each participant.
- End of year summary of participant performance.