Test description
This test consists of genotyping of two polymorphisms (SNPs) in the Human hereditary hemochromatosis gene (HFE, OMIM: 235200): p.His63Asp and p.Cys282Tyr, using TaqMan technology.
Methodology
The 2 variants are genotyped by a TaqMan assay in duplicate (2 independent DNA extractions) from 2 independent PCR reactions (one for each variant).
Limitations
This test will not detect all possible clinically relevant variants. A negative result does not rule out the possibility that the individual harbors a variant not included in the assay. DNA variants located in primer binding sites and rare genotyping errors can result in inaccurate diagnosis.
Ordering information
Turnaround time: 3 months
Specimens accepted:
- 2 x 4 mL blood in EDTA tubes (purple top tube) – 2 mL for newborns
- DNA: min 10 ug
- For any other sample type, contact the laboratory for testing availability
Submit your test request using our molecular genetics requisition.