Resources

I’m thrilled to see the growing resources and focused energy to help support detection efforts.

Brooks Kuhn, MD, MAS Medical Director, AlphaDetect · Associate Professor of Medicine, UC Davis Health
Brooks Kuhn, MD, MAS, Medical Director of AlphaDetect and Associate Professor of Medicine at UC Davis Health

Helpful resources to support your Alpha‑1 detection efforts and those you identify as at risk

FAQ

  • 1. How is AlphaDetect affiliated with the Alpha‑1 Foundation?

    AlphaDetect is a non-profit subsidiary formed and wholly owned by the Alpha‑1 Foundation (A1F) to uncover people genetically at risk for Alpha‑1 Antitrypsin Deficiency (Alpha‑1). AlphaDetect is a beneficiary of A1F funding and is recognized by the Internal Revenue Service as a tax-exempt organization under 26 U.S.C. § 501(c)(3).

    In addition, AlphaDetect provides a seamless point of entry into A1F and its comprehensive resources, information, and support for providers and people identified at risk for Alpha‑1.

  • 2. What services does AlphaDetect provide?

    AlphaDetect works with healthcare providers and their teams to remove barriers to adopting routine Alpha‑1 detection. We’re equipping healthcare providers with the tools, resources, and protocols needed to identify individuals at risk for Alpha‑1. Our services are aligned with clinical practice guidelines and integrate into clinical workflows at both the practice and institutional levels. These include:

    • Education and Awareness: Provides educational resources and tools that increase awareness of Alpha‑1 as well as the importance and urgency to test
    • Free Testing and Kits: Offering free genetic testing kits through our dedicated Alpha‑1 lab to simplify and accelerate the diagnostic process
    • Expert Support: Access to our medical director for questions about test results or Alpha‑1
    • Operationalizing Detection: Works with practices and institutions to embed proven protocols and guideline-aligned testing into clinical workflows, supported by our Detection Playbook
  • 3. In which states and territories is AlphaDetect testing available?

    AlphaDetect testing is available throughout the United States, including Puerto Rico, except in California, Maryland, New York, Pennsylvania, and Rhode Island. These states require additional laboratory licenses and/or test approvals before we can process specimens from their residents. AlphaDetect will apply for the required approvals as soon as we are eligible.

    We anticipate testing will become available in California, Maryland, Pennsylvania, and Rhode Island in 2027. New York is expected to take longer.

  • 4. Are AlphaDetect kits, services, and resources available outside the United States?

    Internationally, Alpha‑1 detection and testing programs vary by country and healthcare system. Non-U.S. healthcare professionals seeking testing guidance should consult the European Respiratory Society (ERS) for pulmonology or the European Association for the Study of the Liver (EASL) for hepatology.

  • 5. Is there a cost for the kit, processing/testing, and report through AlphaDetect?

    No. There is no cost. Both kits, genetic testing, the report, and the option to speak with our medical director are provided for free. Postage to return samples is also pre-paid. Nothing provided is eligible for patient or insurance billing.

  • 6. What alleles does AlphaDetect test for?

    AlphaDetect tests for the four most common deficient alleles: Z, S, F, and I, in addition to M, the normal allele. Learn more

  • 7. What is the difference between the Cheek Swab and Finger Stick Sample Collection Kit and Report?

    The Cheek Swab Kit uses a saliva sample and reports the patient’s genotype.

    The Finger Stick Kit uses a dried blood spot sample and reports the patient’s genotype and alpha-1 antitrypsin (AAT) level. Targeted next-generation sequencing may be used as a reflex test when there is a low AAT level and genotyping does not detect a deficient allele.

    Both kits:

    • Are free and treatment-agnostic
    • Detect the Z, S, F, and I deficient alleles, as well as M, the normal allele
  • 8. How can I track my kit’s lab status, testing progress, and result report status?

    Reports are sent to healthcare providers via eFax within 7–10 business days after a sample is received at our Alpha‑1 dedicated lab in North Carolina. Reports are also available through the AlphaDetect website portal.

    Our Customer Care Center is happy to answer questions about the status of your kit. Live assistance is available Monday–Friday from 9AM–7PM ET at 877-837-8421. If you call after hours, please leave a message and someone will return your call within 1 business day.

  • 9. Is the test result report confidential?

    Yes. Patient information is kept in the strictest confidence by our lab. Only the healthcare provider who sent in the kit will have access to the corresponding report. The provider can then share the results and their meaning with their patient.

  • 10. How accurate is AlphaDetect’s targeted genotyping test?

    The analytical sensitivity and specificity of AlphaDetect’s genotyping test are greater than XX%.

  • 11. What do I do about a damaged kit or component?

    If your kit or any component is damaged, please do not discard any part of the kit. Keep the kit and the damaged item available when you contact us.

    Please call our Customer Care Center at 877-837-8421 to speak with someone live, Monday–Friday from 9 AM–7 PM ET. If you call after hours, please leave a message and someone will return your call within 1 business day.

  • 12. Can my patient or a family member order a kit themselves?

    Patients or family members are not currently able to directly order an AlphaDetect kit at this time. AlphaDetect kits are only available to healthcare providers with an NPI number.

    The Alpha‑1 Foundation (A1F) provides free, confidential, direct-to-patient genetic testing through the Alpha‑1 Coded Testing (ACT) Study, in partnership with the University of Florida. Please direct anyone interested in directly ordering a free kit to the testing & diagnosis page at a1f.org under the ‘About Alpha‑1’ tab.

Detection Resources from

Detection Playbook

Developed in collaboration with leading clinicians, the Playbook equips you with proven, actionable strategies you can use to operationalize guideline-aligned detection of Alpha‑1.

XX pages

DOWNLOAD

AlphaDetect Brochure

The Brochure provides an overview of who we are and how we are partnering with healthcare providers to accelerate the detection of Alpha‑1.

XX pages

DOWNLOAD

Support and Services from

The Alpha‑1 Foundation (A1F) provides healthcare providers across lung and liver specialties with trusted information on Alpha‑1, diagnosis, research and care, as well as resources to support patients.

Healthcare providers can connect patients and families with free A1F resources, including the opportunity to speak with someone live for questions and guidance, educational resources and events, free genetic counseling, Alpha‑1 experts and specialists, support groups, and opportunities to participate in research.

Contact the Alpha‑1 Foundation
(877) 228-7321
alpha1.org

Healthcare Provider Resources

Alpha‑1 Antitrypsin Deficiency: Healthcare Provider’s Guide

A comprehensive resource for healthcare providers covering Alpha‑1 detection, diagnosis, and treatment, including lung and liver manifestations. It also provides information on patient evaluation and resources available to support patients and families.

20 pages

DOWNLOAD

Pocket Guide

A quick-reference resource designed to give healthcare providers essential information about recognizing, testing for, and managing Alpha‑1 in an easy-to-use format.

XX pages

DOWNLOAD

Alpha‑1 Fast Facts

An at-a-glance overview of key facts about Alpha‑1, including genetics, testing, diagnosis, and its impact on the lungs and liver. A helpful resource for both healthcare-provider education and conversations with patients.

2 pages

DOWNLOAD

Patient-facing Resources

What is Alpha‑1?

A patient resource explaining Alpha‑1 Antitrypsin Deficiency (Alpha‑1), how it’s inherited, and how it can affect the lungs and liver. Ideal for healthcare providers to share with patients who are newly diagnosed or learning about Alpha‑1.

12 pages

DOWNLOAD

The Liver and Alpha‑1

A patient resource explaining how Alpha‑1 can affect the liver in children and adults, including signs and symptoms, testing, and liver health considerations. A helpful resource for providers to share with patients and families affected by Alpha‑1.

10 pages

DOWNLOAD

Frequently Asked Questions about Alpha‑1 Antitrypsin Deficiency

A quick, patient-friendly resource answering common questions about Alpha‑1, including what it is, who should be tested, how it’s inherited, and how it can affect the lungs and liver. Useful for introducing patients and families to the condition and addressing common questions following diagnosis.

2 pages

DOWNLOAD

Clinical Papers

Alpha‑1 Overview

A Review of α1-Antitrypsin Deficiency

This comprehensive review of Alpha‑1 by lead author James K. Stoller includes the genetic basis, clinical impact on the lungs and liver, and continued under-recognition of the condition in clinical practice.

14 pages

Alpha1-Antitrypsin Deficiency

An in-depth clinical review of Alpha‑1, by lead author Pavel Strnad, includes the pathogenesis, diverse lung and liver manifestations, approaches to detection and diagnosis, and evolving management of the condition.

13 pages

α1-Antitrypsin Deficiency

An overview of Alpha‑1, by lead author Catherine M. Green, includes the genetic basis, disease mechanisms, varied lung and liver manifestations, challenges in recognition, and approaches to detection and management.

TK pages

Detection

Clinical Standards and Consensus Guidance

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