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
MARCH 24, 2020- IMPORTANT INFORMATION FROM TESTING LAB DURING COVID-19:
Dear Alpha-1 Coded Testing (ACT) Participant,
This note comes to you hoping that you and your family are staying safe in this unprecedented of times.
We at the UF Alpha-1 Research Lab want you to know that the processing of your samples are of upmost important to us, and would like to get your results out to you as quickly as possible. However, during this time of the COVID-19 virus outbreak, the lab has been slated to serve as the processing center for a study that will hopefully produce an effective treatment for the virus. Therefore, processing of the testing cards is on hold as of today, March 24th, 2020, and your result letter will be delayed until further notice.
Please feel free to send in your completed blood dot cards, as we will still be logging them in to have them ready to go. As soon as the lab is open for alpha testing again, we will begin processing the cards and be able to send out your result letter.
We understand this is very disappointing for you, and apologize for the delay. We encourage you and your family stay safe during this time. Thank you.
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.
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.
Many people at risk for Alpha-1 Antitrypsin Deficiency delay being tested due to concerns about privacy of test results. The Alpha-1 Foundation offers a confidential opportunity to be tested for Alpha-1 through the Alpha-1 Coded Testing (ACT) Study. This research study is through the Alpha-1 Foundation 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. The ACT Study is coordinated by the University of Florida.
To begin the process of requesting an ACT Study test kit, Click here and you will be redirected to the University of Florida’s website to start the first step, signing the informed consent. If you would like more information about the ACT Study, please contact the University of FLorida at 855-476-1227 or firstname.lastname@example.org
If you have any questions about your ACT Study results or would like genetic counseling services, please contact the University of Florida at 855-476-1227 or email@example.com
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.
- 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
- 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: