J. Kim, E. Thiruppathi, R. Djidotor, A. Ali, T. Dielmann; TrilliumBiO, Rockville, MD, United States.
T. Ardiles; Grifols, Los Angeles, CA, United States.

Introduction:
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder linked to significant lung and liver disease. It is characterized by reduced serum alpha-1 antitrypsin (AAT) levels. AATD results from mutations in the SERPINA1 gene, which encodes the AAT protein [1]. Early diagnosis is critical for effective disease management and intervention. There are over 200 known SERPINA1 variants; however, most commercial laboratories identify only two common allelic variants (S and Z) and five associated genotypes (MS, MZ, SZ, ZZ, SS) [2].

The AlphaID™ screening program includes the AlphaID™ Confirm and the AlphaID™ Buccal test (Grifols, USA). AlphaID™ Confirm uses dried blood spot (DBS) specimens to detect SERPINA1 variants, along with serum AAT quantification. In contrast, the AlphaID™ buccal test utilizes buccal swab (BS) specimens to screen for AATD. Both tests detect 12 additional allelic variants not identified by traditional SERPINA1-targeted genetic tests. This study aimed to assess the frequency and associated serum AAT levels of SERPINA1 variants identified by the AlphaID™ screening program within a large, nationwide cohort and to evaluate the added diagnostic advantages of screening for the 12 additional allelic variants.

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