Test Code HFEGEN (PDL Code) / HHEMO (Mayo Code) Hemochromatosis HFE Gene Analysis, Blood
Reporting NameHemochromatosis HFE Gene Analysis,B
Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults
HFE genetic testing is NOT recommended for population screening
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
See Hereditary Hemochromatosis Algorithm in Special Instructions.
Polymerase chain reaction (PCR)-based assay (using LightCycler technology) is used to test for 3 mutations in the HFE gene: C282Y, H63D, and S65C. The S65C mutation is only reported when it is found with the C282Y mutation.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Performing LaboratoryMayo Medical Laboratories in Rochester
Specimen must arrive within 96 hours of draw.
Specimen Type: Whole blood
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 2.5 mL
1. Invert several times to mix blood.
2. Send specimen in original tube.
1. Molecular Genetics-Congenital Inherited Diseases Patient Information Sheet (Supply T521) in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
3. If not ordering electronically, submit a Molecular Genetics Request Form (Supply T245) with the specimen.
Specimen Minimum Volume
Specimen Stability Information
An interpretative report will be provided.
Day(s) and Time(s) Performed
Tuesday, Thursday, Friday; 2 p.m.
Test ClassificationThis test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Code Information
81256-HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D)
LOINC Code Information
|Result ID||Reporting Name||LOINC Code|
Reject Due To