Hemochromatosis (HFE) 3 Mutations
0055656
Ordering Recommendation
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.
Mnemonic
HFE PCR
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Sun-Sat
Reported
2-7 days  
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
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.  
Interpretive Data
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.

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 at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
This test is not recommended for asymptomatic patients under 18 years of age.
CPT Code(s)
81256
Components
Component Test Code*Component Chart Name
0055606H63D Hemochromatosis Mutation
0055608C282Y Hemochromatosis Mutation
0055659Hemochromatosis Mutation Interpretation
0055661S65C Hemochromatosis Mutation
2001316HFE PCR Specimen
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Aliases
  • HLA-H Gene
  • C282Y
  • H63D
  • Hemochromatosis (HFE) Genotype
  • HFE Gene