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HelpTest Code HFE Hemochromatosis HFE Gene Analysis, Blood
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 Mayo Medical Laboratories 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 |
|---|---|---|
| Varies | Ambient (preferred) | |
| Frozen | ||
| Refrigerated | ||
Reject Due To
No specimen should be rejected.
Reference Values
An interpretative report will be provided.
Day(s) and Time(s) Performed
Monday through Friday; 2 p.m.
Performing Laboratory
Mayo Medical Laboratories in Rochester
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 | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 52899 | Result Summary | 50397-9 |
| 52900 | Result | 82939-0 |
| 52901 | Interpretation | 69047-9 |
| 52902 | Specimen | 31208-2 |
| 52903 | Source | 31208-2 |
| 52904 | Method | 49549-9 |
| 52905 | Released By | 18771-6 |
Forms
1.Molecular Genetics: Congenital Inherited Diseases Patient Information (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 (T576) is available in Special Instructions.
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/benign-hematology-test-request-form.pdf)