Laboratory: Genomics
Test Name:
HEREDITARY HEMOCHROMATOSIS (HH) - HFE GENE - (B)
Test Code: MD
Clinical Information:
Specify if the testing is requested for confirmation of diagnosis of hemochromatosis or for carrier status.
For confirmation of diagnosis of hemochromatosis, the patient must have abnormal biochemical parameters for the following:  fasting, morning transferrin saturation (%saturation)>45% and serum ferritin >200μg/L for pre-menopausal women and >300μg/L for males or postmenopausal females.
For carrier status, must provide a pedigree with names of previously tested family members.
For more information see: 
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hemochromatosis
Collection Devices:
Specimen Required:
Blood: 4.0 mL

Specimen must be kept at room temperature.
Referral:
Requisition:
Reference Values:
An interpretive report will be sent.
Availability:
Within 6 Weeks
See Also:
More Information:
Do NOT centrifuge.  Specimen is forwarded to Health Sciences Centre - MS5 for analysis.  Store and ship specimens at room temperature.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).