Test Code HHFEM Hemochromatosis HFE Gene Analysis, Blood
Additional Codes
MAYO: HFE
EPIC: LAB2526
Useful For
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
Testing Algorithm
See Hereditary Hemochromatosis Algorithm in Special Instructions.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)-Based Assay Utilizing Agena Mass Array Platform
Reporting Name
Hemochromatosis HFE Gene Analysis, BSpecimen Type
VariesShipping Instructions
Specimen preferred to arrive within 96 hours of draw.
Specimen Required
Patient Preparation: 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.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 2.5 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Frozen | |||
Refrigerated |
Reject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Reference Values
An interpretative report will be provided.
Day(s) and Time(s) Performed
Monday through Friday; 2 p.m.
Performing Laboratory

Test Classification
This 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
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
HFE | Hemochromatosis HFE Gene Analysis, B | 34519-9 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
52899 | Result Summary | 50397-9 |
52900 | Result | 21694-5 |
52901 | Interpretation | 69047-9 |
52902 | Specimen | 31208-2 |
52903 | Source | 31208-2 |
52904 | Method | 49549-9 |
52905 | Released By | 18771-6 |
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.