Hemochromatosis, DNA Testing, Whole Blood

Hemochromatosis, DNA Testing

Order Code:	HEMPCR
Epic Lab Code:	LAB2466
Order Form:	A-1a Molecular Pathology/Diagnostics or Epic Req

Molecular Pathology
6004 BT GH
384-9568

Specimen:

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

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:

83912, 83901, 83900, 83890, 83894