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Unit Code 81508:
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 HH in adults, but

because of concerns of the overall penetrance of these mutations,(2)

HFE genetic testing is not recommended for population screening

 

Testing of asymptomatic individuals with increased blood test of iron

stores (increased percent saturation of transferrin or serum ferritin)

 

With appropriate genetic counseling, predictive testing of individuals

who have a family history of HH (careful consideration should be given

to the advantages and disadvantages of such testing before testing

is performed)

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

Detects 2 mutations: C282Y and H63D. Presence of the S65C

mutation is reported only when it is observed as part of the

C282Y/S65C genotype.

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

• Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet 
• Informed Consent for DNA Testing 
• Hereditary Hemochromatosis Algorithm 

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

A 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.)
 
For more information about hereditary hemochromatosis
testing, see "Hereditary Hemochromatosis Algorithm" in 
Special Instructions.     

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

Hemochromatosis HFE Gene Analysis, B

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

HHEMO

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

C282Y

H63D

Hemochromatosis

Hereditary Hemochromatosis

HFE Gene

HLA-H Gene

Soft-HHEMO