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

Who Should Test?

• Family history of Alpha-1 antitrypsin deficiency (clinical diagnosis or phenotyping)
• Known familial mutation in the Pi gene
• Partner with a diagnosis of Alpha-1 (carrier screening)
• Couples with a previous child with Alpha-1 and neonatal hepatic disease
• Known family history of Alpha-1-related disorders
• Signs and/or symptoms of Alpha-1:
  • Early-onset emphysema (45 years or younger)
  • Emphysema without a known cause or risk factor (such as smoking or occupational exposure)
  • Chronic obstructive pulmonary disease (COPD)
  • Asthma with incompletely reversible airflow obstruction
  • Adolescents with persistent airflow obstruction
  • Abnormal lung function tests with no symptoms of Alpha-1, with OR without a known risk factor – smoking or occupational exposures (agricultural products, mineral dust)
  • Bronchiectasis without a known cause
  • Unexplained liver disease – newborns, children, adults, and especially the elderly
  • Panniculitis
  • Anti-proteinase 3-positive vasculitis (C-ANCA)

Medical Guidelines and References

American Thoracic Society/European Respiratory Society Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency. 2003. Am J Respir Crit Care Med 168:818-900.

DeMeo DL, Silverman EK. 2004. Alpha-1-antitrypsin deficiency – 2: Genetic aspects of Alpha1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 59:259-264.

Fairman, P. Alpha1-Antitrypsin Deficiency.

www.emedicine.com/med/topic108.htm

Luisetti M, Seersholm N. 2004. Alpha-1-Antitrypsin deficiency – 1: Epidemiology of Alpha1-antityrpsin deficiency. Thorax 59:164-169.

Needham M, Stockley RA. 2004. Alpha-1-antitrypsin deficiency – 3: Clinical manifestations and natural history. Thorax 59:441-445.

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).