HEMOCHROMATOSIS GENE ANALYSIS

General Information

Alias: HFE

Performed: Sun-Sat

Turn Around Time: 3-7 days

CPT Codes: 81256

Performed By: Referral Lab

Notes:

Background information for Hemochromatosis (HFE) 3 Mutations:

Characteristics: Disorder of iron metabolism resulting in excessive iron storage leading to increased skin pigmentation, arthritis, hypogonadism, diabetes mellitus, heart arrhythmias/failure, cirrhosis and liver carcinoma.

Incidence: One in 300 individuals of Northern European descent; unknown in other ethnicities.

Inheritance: Autosomal recessive.

Penetrance: 5 percent of C282Y homozygotes, 1 percent of C282Y/H63D compound heterozygotes and rare H63D homozygotes develop clinical symptoms.

Cause: Two pathogenicHFE gene mutations on opposite chromosomes.

Mutations Tested: p.C282Y (c.845G>A), p.H63D (c.187C>G), and p.S65C (c.193A>T).

Clinical Sensitivity: 85 percent of hereditary hemochromatosis in Northern Europeans is caused by C282Y homozygosity and 5 percent by C282Y/H63D compound heterozygosity.

Analytical Sensitivity and Specificity: 99 percent.

Limitations: HFE mutations, other than those targeted, will not be detected. Diagnostic errors can occur due to rare sequence variations.

Clinical Utility: Confirm clinical diagnosis of hereditary hemochromatosis (HH) in an individual with biochemical findings of iron overload. Screen adult family members of individuals with known HH. Test reproductive partner of an individual with HH for carrier status. Not recommended for initial hemochromatosis testing.

Link: Hemochromatosis (HFE) 3 Mutations

Components

Specimen Requirements