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HelpTest Code HFEGN Hemochromatosis HFE Gene Analysis, Blood
Reporting Name
Hemochromatosis HFE Gene Analysis, BUseful 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
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen 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
Testing Algorithm
See Hereditary Hemochromatosis Algorithm in Special Instructions.
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Special Instructions
Reference Values
An interpretative report will be provided.
Day(s) and Time(s) Performed
Monday through Friday; 2 p.m.
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 |
Clinical Reference
1. Mura C, Raguenes O, Ferec C: HFE Mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999;93(8):2502-2505
2. Beutler E, Felitti VJ, Koziol J, et al: Penetrance of 845G->A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359(9302):211-218
3. Walsh A, Dixon JL, Ramm GA, et al: The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin Gastroenterol Hepatol 2006;4(11):1403-1410
4. Whitlock EP, Garlitz BA, Harris EL, et al: Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med 2006;145(3):209-223
Analytic Time
6 daysReject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Method Name
Polymerase Chain Reaction (PCR)-Based Assay Utilizing Agena Mass Array Platform
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.