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.
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| 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. Rare diagnostic errors may occur due to primer site mutations.
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
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| Note: |
This test is not recommended for asymptomatic patients under 18 years of age.
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| CPT Code(s): |
81256
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Cross References: |
Hemochromatosis (HFE) Genotype
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