Haemochromatosis genotype (H63D and C282Y)
Background:
Testing for the two common variants (H63D and C282Y) in the HFE gene.
For the investigation of patients with iron overload or those with a family history of genetic haemochomatosis (caused by H63D and C282Y variants).
Genotyping will only normally be performed on those with a raised ferritin and/or transferrin saturation, or when there is a clear family history. For predictive (family history) referrals, please provide details of the affected relative (including precise genetic defect identified). Testing in minors is not indicated.
NOTE: Inappropriate requests for genetic tests may be rejected by the laboratory. Please provide as much relevant clinical detail as possible. Rejected samples will be stored in the laboratory for two months.
For more information please contact Dr Chris Duff, Consultant Clinical Scientist.
Other Comments:
Department: Biochemistry
Requirement:
- EDTA (purple top)
Dedicated sample required.
Minimum volume 3ml.
Please ensure sample reaches the laboratory within 72 hours.
Add-on requests are not possible for this test.
Turnaround Time:
4 - 6 weeks