HFE Hemochromatosis Gene Analysis Common Variants with Interpretation
Label Mnemonic: HEMPCR
Epic Lab Code: LAB2466
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adult minimum: 3 mL whole blood in lavender top tube (EDTA) Children minimum: 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays.
Testing Schedule:
Weekly
Turn Around Time:
2 weeks
Reference Range:
By report

Direct detection of two mutations, C282Y and H63D, in the HFE gene.
Comments:
This test is useful for diagnosis of symptomatic patients, presymptomatic diagnosis in asymptomatic patients, and carrier testing in healthy adults.
Methodology:
Polymerase Chain Reaction: Amplification refractory mutation system (ARMS).
CPT Code:
81256