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Catalog ID HFE Hemochromatosis (HFE) 3 Mutations

Important Note

Per insurance prior authorization rules, to qualify to HFE test coverage, patients must have documented labs values of elevated iron, elevated % iron saturation, and elevated ferritin. These values are required to be submitted to insurance for prior authorization and for payment. 

Additional Codes

CPOE: Ref Hemochromatosis (HFE) 3 Mutations

DOE: Ref HFE

Specimen

Lavender EDTA tube, collect 3 mL blood (1 mL minimum)

Whole EDTA blood, refrigerated

Rejection Criteria

Serum, plasma, frozen specimen in glass tube, specimen room temperature >72 hours, insufficient quantity, unlabelled specimen

Interpretative Information

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 pathogenic HFE 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.
Methodology: PCR and fluorescence monitoring.
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.

Performing Lab

ARUP Laboratories

Turn-Around-Time

2-7 days

Reference Values

C282Y Negative: The patient is negative for the HFE C282Y mutation
H63D Negative: The patient is negative for the HFE H63D mutation
S65C Negative: The patient is negative for the HFE S65C mutation