HFE Hemochromatosis Gene Analysis Common Variants with Interpretation

Label Mnemonic:	HEMPCR
Epic code:	LAB2466
Order form:	Molecular Genetics General Consult Requisition
Supply order:	Supply Order Form
Billing:	Billing Policies
CPT code:	81256

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.

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).

Sample Processing:

Do Not Centrifuge.
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original container.

Sample Storage:

Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, weekends, or holidays.

Transport Instructions:

Place requisition into outside pocket of bag.
Recommend early AM overnight shipping or equivalent if not on courier service.
Ship refrigerated.

See Additional Information:
Hereditary Hemochromatosis Information