Hemochromatosis (HFE) Mutation Molecular Detection Build info

Synonyms

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

Short Name

HEMOCHROMATOSIS MUTATION

Procedure Master Number

LAB833

Procedure ID

64733

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 Type

Blood

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 Laboratory

Northwell Health Laboratories

CPT

81256

PDM

Results