Not recommended for initial hemochromatosis testing. 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.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
H63D Negative: The patient is negative for the HFE H63D mutation.
S65C Negative: The patient is negative for the HFE S65C mutation.
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.
This test is performed pursuant to an agreement with BioRad Laboratories, Inc.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0055606||H63D Hemochromatosis Mutation||21696-0|
|0055608||C282Y Hemochromatosis Mutation||21695-2|
|0055659||Hemochromatosis Mutation Interpretation||34519-9|
|0055661||S65C Hemochromatosis Mutation||38380-2|
|2001316||HFE PCR Specimen||31208-2|
- HLA-H Gene
- Hemochromatosis (HFE) Genotype
- HFE Gene