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Benefits of increasing detection and early diagnosis of AAT deficiency

Discover what the benefits of an early diagnosis of AAT deficiency are.

Benefits of increasing detection and early diagnosis of AAT deficiency

Discover what the benefits of an early diagnosis of AAT deficiency are.

Useful links to the major clinical organizations and foundations for further information and support about alpha-1 antitrypsin (AAT) deficiency and COPD.

Alpha-1 Antitrypsin Deficiency and COPD

Alpha-1 is the #1 genetic risk for COPD. AAT deficiency is a contributing cause in approximately 3% of COPD cases in the US.

AAT Deficiency FAQs

Frequently asked questions about alpha-1 antitrypsin deficiency, its connection with COPD, disease diagnosis, screening guidelines and more.

The Impact of Screening Your Patients for Alpha-1

Watch an expert panel describe the emotional impact of alpha-1 screening on patients and how a diagnosis often motivates those patients to be more proactive about their health.

The Impact of Screening Your Patients for Alpha-1

Watch an expert panel describe the emotional impact of alpha-1 screening on patients and how a diagnosis often motivates those patients to be more proactive about their health.

Screening for Alpha-1 in Your Practice

Watch alpha-1 experts describe the easy screening process for AAT deficiency and the benefits of diagnosing alpha-1 in its early stages.

Screening for Alpha-1 in Your Practice

Watch alpha-1 experts describe the easy screening process for AAT deficiency and the benefits of diagnosing alpha-1 in its early stages.

How to Screen with AlphaID™

Watch a demo video on how to screen for alpha₁-antitrypsin (AAT) deficiency with AlphaID™, the fast, free, and accurate cheek swab that is provided compliments of Grifols and may not be billed to patients or their insurers.

How to Screen with AlphaID™

Watch a demo video on how to screen for alpha₁-antitrypsin (AAT) deficiency with AlphaID™, the fast, free, and accurate cheek swab that is provided compliments of Grifols and may not be billed to patients or their insurers.

Carla’s Story

Watch Carla’s story. Carla had breathing problems her whole life. Then a chance encounter with a nurse practitioner changed Carla’s life when she was tested for alpha-1.

Carla’s Story

Watch Carla’s story. Carla had breathing problems her whole life. Then a chance encounter with a nurse practitioner changed Carla’s life when she was tested for alpha-1.

Order AlphaID™ Test Kits

Order form to request free AlphaID™ genetic screening test kits for alpha-1 antitrypsin (AAT) deficiency.

Order AlphaID™ Test Kits

Order form to request free AlphaID™ genetic screening test kits for alpha-1 antitrypsin (AAT) deficiency.

AAT deficiency is not rare; it is rarely diagnosed

Find out more about the estimated prevalence of AAT deficiency

A Respiratory Therapist’s Perspective on AAT Deficiency

Watch respiratory therapy director Gretchen Kolhoff explain the urgency of screening for alpha-1 and the fact that only a genetic test can provide a differential diagnosis.

A Respiratory Therapist’s Perspective on AAT Deficiency

Watch respiratory therapy director Gretchen Kolhoff explain the urgency of screening for alpha-1 and the fact that only a genetic test can provide a differential diagnosis.

Doreen’s Story

Watch Doreen’s story. It took eight years of being incorrectly treated for bronchitis and asthma before Doreen received her alpha-1 diagnosis. Twenty years later, she continues to advocate for screening of alpha-1.

Doreen’s Story

Watch Doreen’s story. It took eight years of being incorrectly treated for bronchitis and asthma before Doreen received her alpha-1 diagnosis. Twenty years later, she continues to advocate for screening of alpha-1.

When to Screen for Alpha-1

Watch experts review the genetic origins of alpha-1 and the criteria used to determine whether a patient should be screened for AAT deficiency.

When to Screen for Alpha-1

Watch experts review the genetic origins of alpha-1 and the criteria used to determine whether a patient should be screened for AAT deficiency.

What is Alpha-1?

Watch this video to learn how alpha-1 is the #1 known genetic risk factor for COPD. Alpha-1 may be a contributing cause in up to 480,000 cases of COPD in the United States.

What is Alpha-1?

Watch this video to learn how alpha-1 is the #1 known genetic risk factor for COPD. Alpha-1 may be a contributing cause in up to 480,000 cases of COPD in the United States.

About AlphaID™ Screening Test

AlphaID cheek swab is a genetic test that screens for the 14 most prevalent mutations associated with alpha-1 antitrypsin (AAT) deficiency.

About AlphaID™ Screening Test

AlphaID cheek swab is a genetic test that screens for the 14 most prevalent mutations associated with alpha-1 antitrypsin (AAT) deficiency.

Pathophysiology of AAT Deficiency

Causes of alpha-1 antitrypsin (AAT) deficiency and the disordered physiological processes associated with this genetic form of COPD.

AAT Deficiency Resources

Curated collection of alpha-1 antitrypsin (AAT) deficiency videos and downloads for healthcare professionals.

AAT Deficiency Diagnosis

Alpha-1 antitrypsin (AAT) deficiency shares signs and symptoms with COPD (which includes emphysema, asthma and chronic bronchitis). Individuals may wait 8 years to get diagnosed.

AAT Deficiency Screening Guidelines

Alpha-1 antitrypsin (AAT) deficiency testing guidelines from COPD Foundation, ATS, GOLD, WHO and CHEST.

Alpha-1 Patient Types

Watch this video to learn why genetic screening for alpha-1 in all patients with COPD or treatment-resistant asthma is recommended, regardless of age, smoking history, or FEV₁.

Alpha-1 Patient Types

Watch this video to learn why genetic screening for alpha-1 in all patients with COPD or treatment-resistant asthma is recommended, regardless of age, smoking history, or FEV₁.

Consequences of AAT Deficiency

The most common mortality cause in patients with AAT deficiency is respiratory failure.

Consequences of AAT Deficiency

The most common mortality cause in patients with AAT deficiency is respiratory failure.

AlphaID™ Contact Info

Contact us for more information about AlphaID™ screening test and alpha-1 antitrypsin deficiency.

Support for Practices that Screen with AlphaID

The role of respiratory therapists, nurse practitioners and physician assistants in alpha-1 antitrypsin (AAT) deficiency diagnosis.

AAT Deficiency Inheritance Pattern

The most common genotypes, AAT serum levels, and risk for AAT deficiency. See alpha-1 family tree and learn how is alpha-1 inherited

Why Screen for Alpha-1

Watch to learn why screening for alpha-1 is important. Approximately 90% of patients with alpha-1, also known as genetic COPD, are estimated to be undiagnosed.

Why Screen for Alpha-1

Watch to learn why screening for alpha-1 is important. Approximately 90% of patients with alpha-1, also known as genetic COPD, are estimated to be undiagnosed.

Daryl’s Story

Watch Daryl’s story. Initially misdiagnosed with asthma, he is an ultra-distance cyclist living with alpha-1 who now champions genetic screening for patients and their families.

Daryl’s Story

Watch Daryl’s story. Initially misdiagnosed with asthma, he is an ultra-distance cyclist living with alpha-1 who now champions genetic screening for patients and their families.

Alpha-1 Prevalence and Underdiagnosis

Watch an expert panel discuss why AAT deficiency remains highly underdiagnosed and why they advocate for alpha-1 screening.

Alpha-1 Prevalence and Underdiagnosis

Watch an expert panel discuss why AAT deficiency remains highly underdiagnosed and why they advocate for alpha-1 screening.

Corinne Young and Carol

Watch Corinne Young, FNP-C, FCCP, and her patient Carol as they talk about Carol’s journey to diagnosis with alpha-1.

Corinne Young and Carol

Watch Corinne Young, FNP-C, FCCP, and her patient Carol as they talk about Carol’s journey to diagnosis with alpha-1.

Deficient AAT alleles

Of more than 900,000 COPD patients screened for alpha-1 over 10 years, 15% (>140,000 patients) had at least 1 deficient allele

Deficient AAT alleles

Of more than 900,000 COPD patients screened for alpha-1 over 10 years, 15% (>140,000 patients) had at least 1 deficient allele