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Hemochromatosis Mutation

Inherited mutation causing iron overload, HFE genotype

Test Codes

EPIC: LAB8330, Beaker: GHHG

Department

Molecular Pathology

Instructions

Prior to genotyping, screening with serum Ferritin and Iron Studies (Iron, TIBC, Percent Saturation) or relevant family history is recommended. This test should only be ordered once in a lifetime.

Specimen Collection Criteria

Collect: One 10.0 mL whole blood in Lavender-top EDTA tube. (Minimum: 5.0 mL)

Physician Office/Draw Specimen Preparation

Do not freeze specimens. Maintain whole blood refrigerated (preferred) (2-8°C or 36-46°F) or at room temperature (20-26°C or 68-78.8°F) prior to transport.

Preparation for Courier Transport

Transport: Whole blood refrigerated (preferred) (2-8°C or 36-46°F) or at room temperature (20-26°C or 68-78.8°F). (Minimum: 5.0 mL whole blood)

Rejection Criteria

• Frozen specimens.
• Centrifuged specimens.
• Mislabeled or unlabeled tubes.
• Specimens collected in heparin tubes (Green-top), clot tubes (Red-top), or SST tubes.
• Specimens not collected and processed as indicated.
• This test will only be performed once in a lifetime for a patient.

Clients will be notified of any cancellations of testing.

In-Lab Processing

Do not freeze specimens. Refrigerate (2-8°C or 36-46°F) specimens that will not be tested within 72 hours.

Storage

Specimen Stability for Testing:

Whole Blood
Room Temperature (20-26°C or 68-78.8°F): 72 hours
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Refrigerated (2-8°C or 36-46°F): 7 days

Laboratory

Royal Oak Molecular Pathology Laboratory

Performed

Once per week.
Results available in 7-10 business days.

Reference Range

C282Y: Wild Type, H63D: Wild Type

Test Methodology

Real-Time Polymerase Chain Reaction (PCR) with Allelic Discrimination.

Interpretation

• Hereditary hemochromatosis (HH) is an inherited disorder of iron metabolism, with progressive accumulation of excess iron in various sites, (e.g., pancreas, liver, heart, pituitary gland, skin, and joints). Clinical symptoms include: diabetes mellitus, liver cirrhosis, gonadal failure, arthritis and skin pigmentation. The progressive increase in body iron stores leads to organ damage late in life and diagnosis in middle age or elderly men and post-menopausal women. Diagnosis may be difficult due to long periods of non-specific symptoms preceding clinical presentation (weakness, fatigue, malaise, nonspecific arthritic pain). Conventional screening and diagnostic methods (transferrin saturation, serum iron and ferritin, liver biopsy) are positive only after significant iron accumulation and potential damage have occurred.
  
  
• This assay examines two mutations, C282Y and H63D. The vast majority (83-100 %) of patients with HH are homozygous for C282Y (vs. <0.5% of controls). Compound heterozygotes (those positive for both mutations) may still develop hemochromatosis but have lower penetrance than C282Y homozygotes. Isolated heterozygosity for either C282Y or H63D, as well as homozygosity for H63D, are not associated with increased risk for  hemochromatosis. Carrier frequency for C282Y heterozygosity is approximately 10% in phenotypically normal individuals.
  
• Prior to genotyping, screening with serum Ferritin and Iron Studies (Iron, TIBC, Percent Saturation) or relevant family history is recommended.

Clinical Utility

Detection of hereditary hemochromatosis prior to iron overload-induced damage allows early treatment by therapeutic phlebotomy. The test is recommended for patients with clinically suspected iron overload, and laboratory documented elevated ferritin, serum iron and % saturation, as well as elevated liver function tests. The test is also recommended for patients with positive family history of hereditary hemochromatosis. Once genotypic HH diagnosis is made, blood relatives and spouses should be tested to determine individual risk factors.

CPT Codes

81256

Contacts

Last Updated

8/19/2024