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Test Name

Hereditary Hemochromatosis DNA Mutation Analysis

CPT Code(s)

81256

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, AZ, DE, FL, GA, MA, MN, NV, NH, NJ, NM, NY, OR, SD or VT or test is performed in MA.

Methodology

Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)

Limitations

Expression of C282Y/C282Y homozygosity is variable. Some individuals who fail to meet the diagnostic criteria for hemochromatosis are homozygous for the gene. If these mutations are not found by the testing procedure, it does not mean that the risk of carrying or developing HH is not present. It simply means that these specific mutations have not been found, although other mutations may be present. It is also possible that such a patient may have secondary hemochromatosis, due to nongenetic causes, that would not be detected by this test.

Reference Range(s)

See Laboratory Report

Clinical Significance

Hereditary Hemochromatosis (HH) is an inherited disorder wherein the body accumulates excess iron. This test establishes HH diagnosis in individuals with abnormal iron study results and identifies at-risk family members.

Test FAQ

Hereditary Hemochromatosis DNA Mutation Analysis

Alternative Name(s)

HLA-H,HFE,Hemochrom HFE Gene Analysis, Blood,Hemochromatosis Hereditary DNA,H63D,Hemochromatosis,C282

To view specimen requirements and codes please Select a regional laboratory.

Not sure which laboratory serves your office? Call us 866-MYQUEST (866-697-8378)

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.

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Hereditary Hemochromatosis DNA Mutation Analysis
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