HFE

Whole blood

Lavender (EDTA), pink (K2EDTA), blue (Na Citrate) or yellow (Acid Citrate Dextrose) color tube.

1ml

Ambient

30 days

Incorrect tube, Inadequate volume

Negative

3-7 days

Pyrosequencing

Moleuclar Diagnostics Laboratory

Hemochromatosis, HFE, HFE Genotype, C282Y, H63D, S65C

81256

• Patient Consent Form

Phenotype Characteristics: Hereditary hemochromatosis (HH) results from a mutated hemochromatosis (HFE, human factors engineering) protein wherein the body accumulates excess iron. Excessive iron storage can lead to increased skin pigmentation and diseases including arthritis, hypogonadism, diabetes mellitus, heart arrhythmias/failure, cirrhosis and liver carcinoma. This test establishes HH diagnosis in individuals with abnormal iron study results and identifies at-risk family members.

Mutations in the HFE gene that cause hereditary hemochromatosis also increase the risk of developing the most common form of porphyria, porphyria cutanea tarda. The C282T HFE mutation may also increase the severity of the iron overload in X-linked sideroblastic anemia when it is inherited with a mutation in the ALAS2 gene.

 Incidence: One in 300 individuals of Northern European descent; less common in other population.
 

Inheritance: Autosomal recessive.

 Penetrance: The most penetrant of these mutations is C282Y; C282Y homozygotes account for up to 90% of clinical cases of hereditary hemochromatosis. H63D and S65C homozygosity typically cause only mild disease or no clinical consequences.

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

 Methodology: Mutations are detected using genomic DNA and pyrosquencing of PCR products. This test was developed and its performance characteristics were determined by UTMB Pathology Molecular Diagnostics Laboratory. It has not been cleared or approved by the U. S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
 

Analytic Sensitivity and Specificity: 99 percent.

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

Counseling and informed consent are recommended for genetic testing. Consent form is available online.

References:

OMIM: http://omim.org/entry/613609

Genetics Home Reference: https://ghr.nlm.nih.gov/gene/HFE