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Test Catalog

Test ID: HHEMO    
Hemochromatosis HFE Gene Analysis, Blood

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Detects the 2 common disease-causing mutations: C282Y and H63D. The S65C mutation is reported only when it is observed as part of the C282Y/S65C genotype.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Hereditary Hemochromatosis Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

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.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Hemochromatosis HFE Gene Analysis,B

Aliases Lists additional common names for a test, as an aid in searching

Hereditary Hemochromatosis
HFE Gene
HLA-H Gene