Hemochromatosis DNA Test Has a family member been diagnosed with hemochromatosis and you are concerned about your risk? Are you experiencing unexplained symptoms such as joint pain, lack of energy, fatigue, impotence or loss of sex drive, hyperpigmentation (discoloration of the skin), or abdominal pain? Have you been diagnosed with diabetes, arthritis, congestive heart failure, cirrhosis, or hypogonadism? Do you have unexplained elevation of serum liver enzymes? Do you have elevated transferrin saturation (>60%) or serum ferritin concentration (>400 ng/ml in men and >200 ng/ml in women)? If you answered yes to any of these questions, Hemochromatosis DNA testing is recommended. Heriditary Hemochromatosis (HH) is regarded as the most common genetic disorder in Caucasians, with an estimated prevalence of 1/200 (homozygotes - people with 2 copies of the mutation) and a carrier frequency (heterozygotes, people with one copy of the mutation) of 1/8. This disorder involves excess iron absorption and storage in organs and leads to high morbidity and mortality if untreated. Hemochromatosis is preventable if diagnosed early. DNA testing is a valuable aid for early detection of this disorder, detecting over 85% of cases. Hemochromatosis SymptomsMost homozygotes develop symptoms in adulthood, although the age of onset has been as young as 2 years. Symptoms tend to occur in men between the ages of 30 and 50 and in women over age 50. However, many people have no symptoms when they are diagnosed. Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include:
If the disease is not detected early and treated, iron may accumulate in body tissues and may eventually lead to serious problems such as
The Testing ProcessThe process is simple. We send you a cheek swab collection kit in the mail. Samples are returned to our laboratory and results are typically available in 5-7 business days. Hemochromatosis DNA Testing ResultsTwo mutations associated with hemochromatosis have been discovered in the HFE gene. The major mutation, Cys282Tyr (also known as 845A) is present in the homozygous state in 85% of Caucasians with clinically diagnosed hemochromatosis. Most homozygotes (with two copies of the mutation) and some heterozygotes (with one copy of the mutation) develop iron overload and hemochromatosis. A second mutation, His63Asp (also known as 187G), appears to somewhat increase risk of iron overload. Although only a small percent of individuals (up to 6%) with this mutation develop hemochromatosis, DNA testing for hemochromatosis provides for effective early diagnosis and prevention.
Results include genetic consultation for physicians, patients, and families with board certified genetic counselors. If you are concerned that you may have Hemochromatosis, call 800-523-3080 to order your Hemochromatosis DNA test for only $395. You can also order on-line, or download the order form and fax or mail in your order. References1. Bacon BR et al. (1999). Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology 116:193-207.2. Feder JN et al. (1996). A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:99-408. 3. Jouanolle AM et al. (1996). Haemochromatosis and HLA-H. Nat Genet 14:251-252. 4. Kaikov Y et al. (1992). Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature. Pediatrics 90:37-42. 5. Shaheen NJ et al. (1998). Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation. Hepatology 28:526-529. 6. Witte DL et al. (1996). Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. Clin Chim Acta 245:139-200.
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