Test Directory

• c.193A>T (p. Ser65Cys)
• c.187C>G (p.His63Asp)
• c.845G>A (p. Cys282Tyr)

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 autosomal recessive iron storage disorder. Patients may have a genetic diagnosis of hereditary hemochromatosis and never show clinical symptoms. Clinical symptoms typically appear between 40 to 60 years in males and after menopause in females. Signs and symptoms may include organ damage, primarily in the liver, risk for hepatocellular carcinoma, diabetes, and heart disease due to iron accumulation. Life expectancy may be decreased in individuals who develop cirrhosis.

Specimen Type: Whole Blood

Alternate Specimen Type: Buccal Swab

Collection Container: Lavender Top (EDTA)    

Alternate Collection Container: Pale Yellow Top (ACD) or LabCorp Buccal Swab

Desired Specimen Volume: 7 mL

Alternate Specimen Volume: 4 Buccal Swabs

Whole Blood:

1. Collect 2 lavender top (EDTA) tubes via venipuncture.

Buccal Swab:

1. Collect 4 buccal swabs using the LabCorp Buccal Swab Collection Kit (call referral testing for kit)

Whole Blood:

1. Transport 7 mL of whole blood in the original collection containers.

Buccal Swab:

1. Transport 4 buccal swabs with the materials provided in the LabCorp Buccal Swab kit.

Transport to the laboratory refrigerated. 

• Frozen specimen
• Hemolysis
• Quantity not sufficient for analysis
• Improper container
• One buccal swab
• Wet buccal swab

See patient report.

Results should be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

• Cirrhosis
• Iron Overload
• Iron Storage
• Hereditary Hemochromatosis, DNA Analysis