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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 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

Mayo Clinic 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 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.