Simple steps to detect and diagnose AAT deficiency
Detecting and diagnosing alpha1-antitrypsin (AAT) deficiency has evolved to become relatively simple, in 2 steps1-3:
Step 1: Rule out alpha-1 with a simple cheek swab such as AlphaID™, a targeted screening test for genotype
Step 2: If an abnormal allele is detected, an AlphaID CONFIRM™ Dry Blood Spot kit can be used to measure AAT protein level and confirm a diagnosis
Benefits of early identification and diagnosis
Early identification and diagnosis of AAT deficiency is important because it allows providers to consider available treatment options for appropriate patients and can lead to family testing to identify carriers of AAT deficient alleles.4,5
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COPD, chronic obstructive pulmonary disease.
- A1AT Genotyping Test Package Insert. Bizkaia, Spain: Progenika Biopharma.
- DNA Genotek. Collection kits for diagnostics. https://www.dnagenotek.com/US/products/collection-human/collection-kits-for-diagnostics.html. Accessed August 10, 2021.
- Biocerna website. AlphaID CONFIRM. Available at: http://www.biocerna.com/alphaidconfirm. Accessed September 14, 2021.
- Stoller JK. Myths and misconceptions about α1-antitrypsin deficiency. Arch Intern Med. 2009;169(6):546-550.
- Stoller JK. Detecting alpha-1 antitrypsin deficiency. Ann Am Thorac Soc. 2016;13(Suppl. 3):S317-S325.