Specimen

Whole Blood

Collection Medium:

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

Analytic 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:

87536