Test Catalog

Test ID: HFE    
Hemochromatosis HFE Gene Analysis, Blood

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 genetic 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.

Highlights

Molecular testing can be done to establish or confirm the diagnosis of hereditary hemochromatosis in individuals with clinical symptoms.

                

This test is not recommended for population screening.

 

This assay will not detect all of the mutations that cause hereditary hemochromatosis.

 

The S65C mutation is reported only when observed as part of the C282Y/S65C genotype.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Hereditary Hemochromatosis Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

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

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Hemochromatosis HFE Gene Analysis, B

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

C282Y
H63D
Hereditary Hemochromatosis
HHEMO
HFE Gene
HLA-H Gene