Test Directory

Hemochromatosis HFE Gene Analysis, Blood

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Updated Test Information:

Test Description
Hemochromatosis HFE Gene Analysis, Blood
Synonym(s)

C282Y; H63D; Hereditary Hemochromatosis; HHEMO; HFE Gene; HLA-H Gene

Test ID
HFE
General Information

Useful for:



  • Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults

  • Testing of individuals with increased transferrin-iron saturation in serum and serum ferritin

  • With appropriate genetic counseling, predictive testing of individuals who have a family history of HH

  • HFE genetic testing is NOT recommended for population screening

Container Type

Send specimen in original tube

Specimen Type

Whole Blood

Specimen Requirements

  • Preferred: Lavender EDTA

  • Acceptable: Yellow Top (ACD)

  • Acceptable: Any anticoagulant

Additional Processing Details

Specimen preferred to arrive within 96 hours of draw

Required Information
Stability

Not provided

Unacceptable Specimen Conditions

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Limitations

  • This assay will not detect all of the mutations that cause hereditary hemochromatosis. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with this disease

  • Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete

  • Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered

  • In rare cases, DNA alterations of undetermined significance may be identified. Because of concerns of the overall penetrance of HFE mutations, HFE genetic testing is not recommended for population screening

  • A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Methodology

Polymerase Chain Reaction (PCR)-Based Assay Utilizing Agena Mass Array Platform

Estimated TAT

6-7 days

Testing Schedule

Monday-Friday

Retention

  • Whole Blood: 2 weeks

  • Extracted DNA: 3 months

CPT Code(s)

81256

Additional Information
Minimum Sample Volume

0.5 mL

Reference Range

An interpretative report will be provided

Performing Lab

Mayo

LOINC Code(s)

50397-9, 21694-5, 69047-9, 31208-2, 31208-2, 49549-9, 18771-6