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Test Code HFEGN Hemochromatosis HFE Gene Analysis, Blood

Reporting Name

Hemochromatosis HFE Gene Analysis, B

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type


Shipping 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


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)

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 days

Reject 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


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.