Hemochromatosis

Last Modified: 10/4/2019 9:23:04 AM


Medical Necessity Documentation:  
Client Notes:  
Patient Preparation:  
Specimen Requirements: 5.0 mL Whole Blood in a Lavender Top Tube - EDTA
Collection Instructions:  
Transport & Storage: Temperature/Stability: 8 days Ambient
8 days Refrigerated

Specimen stability is crucial. Store and ship room temperature immediately.
Rejection Criteria: Frozen
Reference Range: Refer to Interpretive Results
Critical Ranges:  
Test Comments:  
Methodology: Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)
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.
Documentation: 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.
Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 4 to 5 days
Days Performed: Sunday, Monday, Tuesday, Wednesday, Thursday, Friday, Saturday
Sites Performed: Quest - Chantilly
PHL Test Code: HHDNA
EPIC Test Code: LAB2687
Send Out Test Code: 10249
Alternate Test Names: C282Y; Hemochrom HFE Gene Analysis; Hereditary Hemochromatosis DNA Mutation Analysis ; HFE; HH63D; HLA-H
Included Tests:  
CPT Coding: 81256

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