26497 Hereditary Hemochromatosis, HFE Variant Analysis, Varies (HFET)

​C282Y, H63D, Hereditary Hemochromatosis, HFE Gene, HFET, HHEMO, HLA-H Gene

​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.

GENETICS TEST INFORMATION: 

This test detects the 2 common disease-causing variants in the HFE gene: C282Y (c.845G>A) and H63D (c.187C>G). The S65C variant will be 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 assay will not detect all variants in the HFE gene that cause hereditary hemochromatosis.

Specimen preferred to arrive within 96 hours of collection.

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.

Collection Instructions: 

Whole Blood:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Saliva:

1.  Collect and send specimen per kit instructions.

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

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

This assay only tests for the C282Y, H63D and S65C (reported as a part of the C282Y/S65C genotype) variants and will not detect all variants in the HFE gene that may be associated with hereditary hemochromatosis. Therefore, the absence of a detectable C282Y, H63D, or S65C variant does not rule out the possibility that an individual is a carrier of or affected with this disease.

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in the interpretation of results may occur if information given is inaccurate or incomplete.

Rare variants (ie, polymorphisms) exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

In rare cases, DNA variants of unknown significance may be identified.

Because of concerns of the overall penetrance of HFE variants, HFE genetic testing is not recommended for population screening.

​An interpretive report will be provided.