FREQUENTLY ASKED QUESTIONS

After receiving your AlphaID™ At Home Genetic Health Risk Service Report and learning your risk for alpha-1 antitrypsin deficiency, or AATD, it's natural to have questions. We're here to help by answering some of the most common and important questions about AATD and AATD testing. We'll also provide other helpful resources for additional information and support.

AATD Testing

If I already learned my risk for AATD through the AlphaID At Home Genetic Health Risk Service Report, why do I need this test, too?

The AlphaID At Home Genetic Health Risk Service Report identifies your risk level for AATD. It is not a diagnosis of AATD.

AlphaID™ CONFIRM* is an FDA-cleared and laboratory-developed test for use by your healthcare professional to reach an AATD diagnosis. An actual diagnosis provides the information for you and your healthcare professional to make decisions, address changes in your health, and develop an optimal treatment plan. The AlphaID CONFIRM kit must be conducted by a healthcare professional and uses a fingerstick to determine the level of alpha-1 antitrypsin in your blood and establish your baseline level.

Since I completed the AlphaID At Home Genetic Health Risk Service on my own, why can’t I test myself with the AlphaID CONFIRM* kit?

AlphaID CONFIRM must be performed by your healthcare professional because only they can perform the fingerstick to identify the level of alpha-1 antitrypsin in your blood, establish your baseline level, and provide a diagnosis. Once the sample has been collected and submitted to the lab, and processing is completed, your results will be sent directly to your healthcare professional to discuss with you.

How is AlphaID CONFIRM* performed?

The free† AlphaID CONFIRM kit contains a quick and easy fingerstick that takes less than 10 minutes for your healthcare professional to conduct in their office. Your healthcare professional mails your sample to an independent national lab for testing. The results are kept in the strictest confidence by the independent lab. Results are shared only back to your healthcare professional.

What is included with my AlphaID CONFIRM* order?

In addition to the AlphaID CONFIRM kit that you should take to your AATD testing appointment with a healthcare professional, you will receive a Doctor Discussion Guide that offers tips to help you prepare for your appointment and an AATD Fact Sheet with important information about AATD and AATD testing.

Is the AlphaID CONFIRM* kit really free?†

Yes. The AlphaID CONFIRM kit is provided for free and may not be billed to patients or their insurers. There is no obligation to purchase or use any product or service offered by any manufacturer. If your healthcare professional or you decide to go to a commercial lab (eg, LabCorp or Quest) to get tested, check with your insurance company to understand any associated costs and coverage.

Where can I find a healthcare professional with experience in AATD testing?

Your current healthcare professional may have experience with AATD testing. If not, or you’re not sure, use our Find a Doctor tool to search using your ZIP code. This tool allows you to find a healthcare professional who has experience testing, including Alpha-1 Foundation Clinical Resource Centers (CRCs) that specialize in AATD.

You can also contact the Alpha-1 Foundation, an independent patient support organization, at (877) 228-7321 Ext: 321 or visit www.alpha1.org for more information about AATD testing.

What should I bring to my AATD testing appointment with my healthcare professional?

It’s important to remember to bring the following items with you to your AATD testing appointment:

  • AlphaID At Home Genetic Health Risk Service Report (if you have one)
  • AlphaID CONFIRM* kit
  • The Doctor Discussion Guide included with your AlphaID CONFIRM kit, or any notes/questions you may have for your healthcare professional

Place these items somewhere in your home where they will be easy to remember to take with you.

AATD

What is AATD?

Alpha-1 antitrypsin deficiency (AL-fa / one / an-tee-TRIP-sin / de-FISH-an-see), often called AATD, is a genetic condition that can lead to serious lung disease. It is passed down from parents to their children through their genes.1-2

What causes AATD?

As you may have learned from your AlphaID At Home Genetic Health Risk Service Report, AATD is caused by genetic variants (differences) in the SERPINA1 gene. This gene contains instructions for making the AAT protein. AAT is made in the liver, and it helps protect lungs from damage. Certain genetic variants in SERPINA1 result in too little AAT getting to the lungs. As a result, lung damage may occur.1-2

How serious and common is AATD?

AATD can lead to serious lung disease. Approximately 100,000 people in the United States have AATD, but fewer than 10% of them have been diagnosed.3-4 This is why it is critical to get tested by your healthcare professional and start the conversation.

People with AATD may develop COPD (a serious lung disease). Lung-related symptoms may include shortness of breath, wheezing, chronic cough, and recurring lung infections.5-6

If you’ve already been diagnosed with COPD, it’s very important to find out if you have AATD. In fact, guidelines from the COPD Foundation and World Health Organization (WHO) recommend that everyone diagnosed with COPD be tested for AATD.7-8

How is AATD treated?

If your healthcare professional diagnoses you with severe AATD, treatments are available‡ to increase the amount of the alpha-1 antitrypsin in your blood.

The only way to know if you have AATD is to get tested by your healthcare professional.

Helpful Resources

Where else can I go for information about AATD?

The following organizations and advocacy groups can provide resources, education, and/or support for AATD.

Alpha-1 Foundation 

The Alpha-1 Foundation is the only national organization dedicated to developing a cure for AATD and improving the quality of life for patients and their families. Acting as a patient advocate, the foundation helps the AATD community better connect to one another—strengthening the support and care networks they need.

www.alpha1.org | (877) 228-7321 Ext: 321

AlphaNet 

AlphaNet is a not-for-profit organization providing innovative health management services and customized care to the AATD community via care coordinators who are AATD patients themselves.

www.alphanet.org | (800) 577-2638

These websites are provided as a resource only and do not constitute an endorsement by Grifols of any particular content. Grifols does not review or control the content of non-Grifols websites.

 

*The AlphaID CONFIRM kit is provided for free and may not be billed to patients or their insurers. There is no obligation to purchase or use any product or service offered by any manufacturer.
†AlphaID CONFIRM contains an FDA-cleared and laboratory-developed test.
‡Talk to your doctor about possible treatment options.

References

  1. American Thoracic Society; European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003 Oct 1;168(7):818-900.
  2. de Serres F, Blanco I. Role of alpha-1 antitrypsin in human health and disease. J Intern Med. 2014 Oct;276(4):311-35.
  3. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with α1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186.
  4. Chorostowska-Wynimko J. Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency. Eur Respir Rev. 2015 Mar;24(135):40-5.
  5. Stoller JK, Aboussouan LS. Alpha1-antitrypsin deficiency. Lancet. 2005 Jun 25-Jul 1;365(9478):2225-36.
  6. McElvaney NG, Stoller JK, Buist AS, Prakash UB, Brantly ML, Schluchter MD, Crystal RD. Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1- Antitrypsin Deficiency Registry Study Group. Chest 1997;111;394-403.
  7. What is COPD? COPD Foundation website. https://www.COPDfoundation.org/What-is-COPD/Understanding-COPD/What-is-COPD.aspx. Accessed February 23, 2023.
  8. World Health Organization. α1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Org. 1997;75(5):397-415.