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Test 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.

Method Name

Polymerase Chain Reaction (PCR)-Based Assay Utilizing Agena Mass Array Platform

Reporting Name

Hemochromatosis HFE Gene Analysis, B

Specimen Type

Varies


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 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 

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 No LOINC Needed

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)

Barnes-Jewish Hospital Additional Information:

For BJH Laboratory Use Only

Laboratory Processing Instructions:

BJH Molecular Diagnostics will forward to the performing laboratory.