Testing for Alpha-1
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
Could it be Alpha-1?
Ways to Test
Anyone can ask their doctor to test them for Alpha-1 or they may choose to be tested confidentially through the Foundation’s Alpha-1 Coded Testing (ACT) study.
Doctor Prescribed Testplus
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 Confidential Testingplus
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.
More Information About Testing
Informed consent is the process through which a person receives appropriate information, understands that information, and agrees to testing. It originates from the legal and ethical right the patient has to direct what happens to their body and from the ethical duty of the physician to involve the patient in their healthcare. You should discuss the decision to get tested for Alpha-1 with your doctor and make sure all of your questions are answered.
Potential Benefits of Alpha-1 Testingplus
- Deciding to stop cigarette smoking, getting help if necessary
- Choosing never to smoke
- Avoiding secondhand smoke
- Avoiding harmful exposures on the job and in the environment
- Avoiding excessive alcohol use
- Better conversations with healthcare providers about preventive care and improving health
Potential Harms of Alpha-1 Testingplus
- May be personally unsettling
- May affect your ability to get life and disability insurance
- May create stress in your family
- May increase your personal health care costs
For more information about informed consent, contact the following resources: