AlphaID

Biocerna offers the proprietary Alpha ID screening test, a comprehensive targeted genetic test assessing 14 common and rare alleles in the SERPINA1 gene using Progenika’s FDA-cleared A1AT Genotyping Test. The Alpha ID screening test utilizes an easy-to-use saliva collection swab and does not require a blood draw or finger stick. Alpha ID merges simple sample collection together with a comprehensive genetic test to identify known clinically-relevant genetic variations. If a positive result is found using this test, a follow-up test, Alpha ID Confirm, uses a finger stick and a blood spot card to asses A1AT protein levels as well a potential reflex to next-generation sequencing (NGS) to help physicians achieve an accurate diagnosis of Alpha-1 antitrypsin deficiency (A1ATD). Biocerna has partnered with Grifols to offer the AlphaID and AlphaID Confirm tests to physicians and their patients. 

What's Alpha-1

Alpha-1 antitrypsin deficiency (A1ATD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as chronic obstructive pulmonary disease (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis. 

Symptoms of AAT deficiency include

  • Shortness of breath and wheezing

  • Repeated lung infections

  • Tiredness

  • Rapid heartbeat upon standing

  • Vision problems

  • Weight loss

Some people have no symptoms and do not develop complications.

Resources

ADx100 sample collection instructions video

Alpha-1 Foundation

NORD

NIH National Library of Medicine