Genetic testing

Family screening for alpha-1 antitrypsin deficiency is especially important for first-degree relatives because it is a genetic condition passed from parents to children. Parents, siblings, and children of someone diagnosed have a significantly higher likelihood of carrying or having the condition.

Early identification gives people the opportunity to:
• Take steps to protect lung health (for example, avoiding smoking and environmental exposures)
• Monitor liver health and identify issues before they become serious
• Make informed decisions about family planning
• Access appropriate care and support, even before symptoms appear

We also recognize that some individuals are hesitant about genetic testing, particularly in public systems, and may prefer to learn and disclose information about inherited conditions on their own terms and timeline. That perspective is understandable. At the same time, earlier access to this information can provide greater choice, control, and the ability to take proactive steps to protect long-term health.

Put simply, you can’t act on what you don’t know. In alpha-1, early awareness can meaningfully improve both lung and liver outcomes while respecting individuals’ readiness and preferences regarding testing.

In 2026, AlphaNet Canada is proud to partner with Discovery DNA, an accredited Canadian provider of rapid exome, genome, and mitochondrial DNA sequencing to improve diagnostic outcomes for patients. Founded by Dr. Aneal Khan, Discovery DNA provides clinical sequencing, data analysis, and consultation for rare diseases, helping bridge gaps in the Canadian healthcare system through timely, on-site analysis.

Through a one-year pilot project, AlphaNet Canada is offering eligible members of our patient community access to confidential SERPINA1 genetic testing at no direct cost to them.

Individuals who meet the criteria below may receive a one-time referral from AlphaNet Canada to Discovery DNA. After AlphaNet Canada’s pre-approval that individuals meet the criteria below, Discovery DNA will ship a saliva collection kit directly to the individual, anywhere in Canada.

Important privacy note:
AlphaNet Canada does not receive or store any genetic test results. Our role is limited to facilitating the referral process. All testing, results, and data  anagement are handled directly and confidentially by Discovery DNA.

To learn more or to determine if you qualify, please contact us at genetictest@alphanetcanada.ca.

Eligibility Criteria

Must be enrolled with AlphaNet Canada
Must be a first-degree relative of an individual with severe alpha-1 antitrypsin deficiency and/or be referred by a Respirologist or Registered Respiratory Therapist (RRT).
Must sign the AlphaNet Canada Patient Consent for Referral and Release form