Hemochromatosis DNA Screen

C282Y & H63D Mutations, HFE, HFE Gene, HLA-H, Iron Overload, UOW172

Hereditary hemochromatosis is an autosomal recessive disease that is very common among people of European ethnicity. The HFE gene was identified as the cause of this disease. In Northern European patients with a diagnosis of hereditary hemochromatosis, about 80% have two copies of a variant in this gene referred to as Cys282Tyr or C282Y. A second variant, His63Asp or H63D, occurs in a smaller percentage of these patients and is associated with a lower penetrance (lower likelihood of developing clinical disease). The Cys282Tyr variant is very uncommon in Asian and African populations, so this test is less useful in people from those ethnic backgrounds.

Indications for testing include:

• Evaluate suspected hemochromatosis


• Differential diagnosis of liver diseases with increased iron loading


• Testing relatives in families already known to carry HFE mutant alleles


• Distinguish homozygotes from heterozygotes in hereditary hemochromatosis families

3 mL LAVENDER TOP tube

Also acceptable: YELLOW TOP (ACD) tube

Blood

2 mL LAVENDER TOP tube

Refrigerate whole blood up to 1 week.

Formalin-fixed paraffin-embedded tissues, Heparin green top tubes

Genetics

This test detects both normal and C282Y and H63D variant (HGVS nomenclature NM_000410.3 c.845G>A, p.C282Y and HGVS NM_000410.3 c.187C>G, p.H63D) alleles in the HFE gene by next-generation sequencing. This test was developed and its performance characteristics determined by the Department of Laboratory Medicine at the University of Washington.

2 Weeks

Weekly

HMDNAR        Hemochromatosis Results
HMDNAI         Hemochromatosis Interp
HMDNAM      Hemochromatosis DNA Method
HMDNAD      Hemochromatosis Director

81256

No

UW

21697-8