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Test Code HFEGEN (PDL Code) / HHEMO (Mayo Code) 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

Testing Algorithm

See Hereditary Hemochromatosis Algorithm in Special Instructions.

Method Name

Polymerase chain reaction (PCR)-based assay (using LightCycler technology) is used to test for 3 mutations in the HFE gene: C282Y, H63D, and S65C. The S65C mutation is only reported when it is found with the C282Y mutation.

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Varies

Specimen Required

Specimen must arrive within 96 hours of draw.

 

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.

Forms:

1. Molecular Genetics-Congenital Inherited Diseases Patient Information Sheet (Supply 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 (Supply T576) is available in Special Instructions.

3. If not ordering electronically, submit a Molecular Genetics Request Form (Supply T245) with the specimen.

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

NA

Reference Values

An interpretative report will be provided.

Day(s) and Time(s) Performed

Monday, Wednesday through Friday; 2 p.m.

CPT Code Information

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

LOINC Code Information

Result ID Reporting Name LOINC Code
16169 Specimen N/A
16170 Specimen ID N/A
16171 Source 31208-2
16174 Order Date N/A
16181 Method 49549-9
16182 Results 21694-5
16183 Interpretation 69047-9
16186 Amendment 21694-5
15999 Reviewed By: N/A
16323 Release Date N/A

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.