Genetic Test Ordering in Primary Care: Alpha-1 Antitrypsin Deficiency
Clinicians in Primary Care can request genetic testing for Alpha-1 Antitrypsin Deficiency. There is no need to refer patients to Clinical Genetics for this test.
Arrange Testing
If you feel confident requesting genetic testing for Alpha-1 Antitrypsin Deficiency, click the button to access the necessary documents.
If you need more help arranging testing for your patient, the resources below should help.
Video
Watch a short video in which Debbie Hipps, our Primary Care Lead, explains how to request genetic testing
GeNotes In the Clinic Resource
Focused on the point of patient care, this short scenario looks at when to consider genomic testing for Alpha-1 Antitrypsin Deficiency and what you need to do
GeNotes Knowledge Hub
Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine.
Frequently Asked Questions
Alpha-1 antitrypsin deficiency is a genetic condition that can predispose an individual to lung and liver diseases, including cirrhosis of the liver and emphysema.
ATD is caused by pathogenic variants in the SERPINA1 gene.
GeNotes has produced a helpful summary about the condition:Alpha-1 antitrypsin deficiency — Knowledge Hub
The pages below have been developed to support people affected by Alpha-1-antitrypsin deficiency:
- Alpha-1 Antitrypsin Deficiency Support
- Asthma + Lung UK:Â Alpha-1-antitrypsin deficiency