Sign in →

Test Code HEMOD Hereditary Hemochromatosis, HFE Variant Analysis, Varies

Reporting Name

Hereditary Hemochromatosis HFE Test

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults

 

Testing of individuals with increased transferrin-iron saturation in serum and serum ferritin

 

Predictive testing of individuals who have a family history of HH, in coordination with appropriate genetic counseling

 

This test is not recommended for population screening.


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



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.

 

Submit only 1 of the following specimens:

 

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 whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient 30 days

Additional Information: Due to lower concentration of DNA yielded from saliva, it is possible that additional specimen may be required to complete testing.

 


Specimen Minimum Volume

0.5 mL

Specimen Type

Varies

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Day(s) Performed

Monday through Friday

Report Available

6 to 7 days

Reference Values

An interpretative report will be provided.

Testing Algorithm

For more information see Hereditary Hemochromatosis Algorithm.

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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.

Method Name

Droplet Digital Polymerase Chain Reaction (ddPCR)

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81256-HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (C282Y and H63D)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HFET Hereditary Hemochromatosis HFE Test 34519-9

 

Result ID Test Result Name Result LOINC Value
614667 Result Summary 50397-9
614668 Result 82939-0
614669 Interpretation 69047-9
614670 Specimen 31208-2
614791 Source 31208-2
614792 Method 85069-3
614793 Released By 18771-6