Hemochromatosis (HFE) Mutation Molecular Detection

Synonyms

  • C282Y
  • H63D
  • HEMOCHROMATOSIS MUTATION
  • HEREDITARY HEMOCHROMATOSIS
  • HFE GENE
  • HFE GENE, HEREDITARY HEMOCHROMATOSIS, IORN OVERLOAD, C282Y AND H63D
  • LAB833

Cerner Name

HLX HEMOCHROMATOSIS CASE

Clinical Info

Hereditary Hemochromatosis (HH) is one of the most common genetic disorders, found most often in people of Northern European descent. It is a disorder of iron metabolism, characterized by inappropriately high absorption of iron by the gastrointestinal mucosa. Clinical HH is characterized by excessive storage of iron in several organs of the body including the liver, pancreas, endocrine glands, heart, skin, joints, testes, and intestinal lining. The buildup of iron in these organs can lead to hepatomegaly, hepatic cirrhosis, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, hypogonadism, arthritis (especially involving the metacarpophalangeal joints) and progressive increase in skin pigmentation. The prevalence of HH varies from 1 per 200-400 individuals in Caucasian population, to 1 per 220-250 in populations of Nordic or Celtic ancestry. The pattern of inheritance is recessive autosomal.

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender top (EDTA)
Specimen Volume: 1-3 mL of peripheral blood
Transport Temperature: Room Temperature
 
Note:  Pertinent medical information including patient’s age, suspected diagnosis and a signed “Patient Consent Form” are required on request form for processing.

Transport Instructions

Room Temperature

Specimen Stability

Specimens are stable for a week refrigerated.

Methodology

Real Time PCR
Samples are analyzed for the hereditary hemochromatosis (HH) mutation C282Y, and H63D in the HFE gene.

Days Performed

Monday through Friday
TAT: 8 Calendar days

Performing Laboratories

Northwell Health Laboratories

CPT

81256

PDM

5160990

Results

Result Interpretation

An interpretive report will be provided.

Forms
Molpath inhouse LAB833 build edit