Who should be tested?
The Alpha-1 Foundation encourages testing for Alpha-1 among those at high risk for this genetic disorder. Early diagnosis can help an Alpha consider different lifestyles, professions or other personal decisions that could maintain or improve their health.
The Clinical Practice Guidelines published in the Journal of the COPD Foundation in July 2016, based on the latest evidence and six years of work, offer the following recommendations for Alpha-1 testing:
- Anyone who has COPD (emphysema and/or chronic bronchitis), regardless of age or ethnicity
- People who have unexplained chronic liver disease
- People who have necrotizing panniculitis, granulomatosis with polyangiitis, or unexplained bronchiectasis
- Parents, siblings and children, as well as extended family members, of people who have been identified with an abnormal gene for Alpha-1, should be provided genetic counseling and offered testing for Alpha-1
- For family testing, alpha-1-protein-level testing alone is not recommended because it does not fully characterize the risk of disease from Alpha-1
- For family testing or diagnostic testing of people who have symptoms, genotyping is recommended for at least the S and Z alleles. Advanced or confirmatory testing should include Pi-typing, alpha-1-protein-level testing, and/or expanded genotyping
Free Confidential Testing
Many people at risk for Alpha-1 delay being tested due to concerns about privacy of test results. The Alpha-1 Foundation supports a confidential opportunity to be tested for Alpha-1 through the Alpha-1 Coded Testing (ACT) Study. This research study is conducted at the Medical University of South Carolina (MUSC) and examines people’s thoughts and feelings about the risks and benefits associated with learning genetic information. Testing through the ACT Study is free and confidential.
You’ll be directed to an application for a free, confidential test kit for Alpha-1 provided by the Alpha-1 Coded Testing (ACT) Study – an Alpha-1 Foundation-supported program run by the Medical University of South Carolina.
For more information, contact the Alpha-1 Research Registry Program at MUSC toll-free at (877) 886-2383 or firstname.lastname@example.org.
For information on the Alpha-1 Foundation Genetic Counseling Program at the Medical University of South Carolina, call (800) 785-3177 or click here.
Doctor Prescribed Test
Alpha-1 cannot be diagnosed by symptoms or by a medical examination alone; you need to get a blood test to know for sure. Contact your doctor and discuss if testing for Alpha-1 is appropriate for you. If you agree to be tested, your doctor will write a prescription for the test.
Testing for Alpha-1 is simple, quick and highly accurate. Testing can be conducted on a blood sample (blood draw or finger stick test). Consult with your health insurance provider to determine if your plan covers the cost of this test.
Free Testing in Florida
The State of Florida Department of Health and Human Services, the Alpha-1 Foundation and the University of Florida College of Medicine sponsor an awareness, screening and detection program for Alpha-1. The State of Florida Detection Program is free to Florida residents. It is administered through doctors’ offices using a finger stick test available from the Alpha-1 Foundation. Test results are mailed directly back to your doctor.
For more information, or if your doctor needs test kits, contact Bob Sobkowiak at the Alpha-1 Foundation, (877) 228-7321 ext. 203 or email@example.com or Roberto Balderas, (877) 228-7321 ext. 205 or firstname.lastname@example.org