HFE Hemochromatosis Gene Analysis Common Variants with Interpretation

Label Mnemonic:	HEMPCR
Epic code:	LAB2466
Downtime form:	Doctor/Provider Orders - Pathology Molecular

Molecular Pathology
6240 RCP
384-9568

Specimen(s):

Whole Blood

Collection Medium:

Pink top tube 6 mL (K2-EDTA)

Minimum:

Adult minimum: 3 mL whole blood in pink top tube (EDTA)
Children minimum: 2 mL whole blood in pink 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