Hereditary Hemochromatosis

Specimen Collection, Storage, and Shipping

Test Information:

The assay uses PCR amplification and pyrosequencing to detect C282Y (Cys282Tyr) variants and H63D (His63Asp) variants in the HFE gene associated with HFE-related hereditary hemochromatosis (HFE-HH). Allele frequencies differ with ethnicity. About 85% of Caucasians with HFE-HH are homozygous for C282Y while about 5% are compound C282Y/H63D heterozygotes. Reporting of the S65C variant is not recommended by the European Molecular Quality Network (EMQN). The majority of C282Y homozygous individuals do not develop clinical disease even in the presence of elevated serum transferrin iron saturation and/or ferritin. Patients with compound heterozygous genetic variants are unlikely to develop clinical disease. Results may be used in diagnostic confirmation of HFE-HH in individuals with biochemical or clinical signs of iron overload or in screening of family members of individuals with confirmed HH genotypes.

Requisition Code:

Hereditary hemochromatosis (C282Y and H63D)

CPT Code:

81256; G0452-26

Turn Around Time:

7-10 days

Specimen Requirements:

Collect:           Peripheral blood: 2-5 mL in EDTA (purple top) tube

Storage:         Room temperature

Remarks:      

Transport:      See Standard Shipping Procedures

References:
  1. Porto G, Brissot P, Swinkles DW, Zoller H, Kamarainen O, Patton S, et al. EMQN best practice guidelines for molecular genetic diagnosis of hereditary hemochromatosis. Eur J Hum Genet 2016;24:479-95.