Test ID: ZH119
Component(s): Z0634 Hereditary Hemochromatosis LOINC: 34519-9
CPT code: 81256
LOINC:
Specimen Type: Lav (EDTA), yellow-top (ACD) OR LabCorp buccal swab kit
Frequency: 5 – 7 days
Instructions: 7 mL Whole Blood from Lav (EDTA), yellow-top (ACD) OR LabCorp buccal swab kit, Ambient. Min 3 mL whole blood OR two buccal swabs.
Text: Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene. Hereditary hemochromatosis (HFE related) is an iron storage disorder. Signs and symptoms may include organ damage, primarily in the liver, risk for hepatocellular carcinoma, diabetes, and heart disease due to iron accumulation
Methodology: PCR amplification followed by restriction enzyme digestion analyses.