Who Should Test?
Medical Guidelines and References
How to Order Testing For Your Patient

Who Should Test?

• Personal or family history of hemochromatosis or iron overload disease
• Known familial mutation in the HFE gene
• Unexplained symptoms including:
  • Adult-onset diabetes
  • Liver disease, cirrhosis, liver cancer
  • Chronic abdominal pain
  • Jaundice 
  • Heart disease, arrhythmia, dyspnea,
  • Arthritis, arthralgia
  • Unexplained weakness, chronic fatigue
  • Weight loss, hair loss
  • Hypothyroidism
  • Hypopituitarism
  • Amenorrhea, early menopause
  • Loss of libido, impotence

Medical Guidelines and References

American Association for the Study of Liver Diseases. 2001. Diagnosis and management of hemochromatosis. Hepatology 33(5):1321-8.

http://www.guideline.gov/summary/summary.aspx?
ss=15&doc_id=3448&nbr=2674

American College of Physicians. 2005. Screening for hereditary hemochromatosis: A clinical practice guideline from the American College of Physicians. Ann Int Med 143(7): 517-522.

http://www.annals.org/cgi/content/full/143/7/517

Adams PC, Walker AP. Acton RT (2001). A Primer for Predicting Risk of Disease in HFE-Linked Hemochromatosis. Genetic Testing; Dec 2001, Vol. 5, No. 4: 311-316.

Mura, C. et al. 2005. A 6-year survey of HFE gene test for hemochromatosis diagnosis. American College of Medical Genetics. 7 (1): 68-73.

Pietrangelo, A. 2004. Hereditary Hemochromatosis - A New Look at an Old Disease. N Engl J Med. 350:2583-97.

Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA et al. 2001. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA; 285(17):2216–2222.

How to Order Testing For Your Patient

Ordering testing for your patient through DNA Direct is easy.

1. Print and complete the DNA Direct Referral Form, and fax it to 806-993-6708, Attention: Clinical Services. (Make sure your patient signs the form and checks the box authorizing DNA Direct to release test results to you.)


DNA Direct Referral Form

2. DNA Direct will send a cheek-swab collection kit directly to your patient and will coordinate all testing services. As part of the testing process, your patient is asked to create a user account with DNA Direct and answer a brief clinical questionnaire.
   
   
3. When testing is complete, as the referring physician you receive a copy of the test results and a Physician Letter, complete with test result interpretation, current medical guidelines, and scientific references. Your patient can then log on to their secure, password-protected account to learn more about their test results and receive updates on clinically relevant information.
   
   
4. You and your patients have ongoing access to support services from DNA Direct's board-certified genetics staff by phone (toll-free at 1-877-646-0222, M-F, 9-5 Pacific) and email (expert@dnadirect.com).