Alpha ID Confirm

Biocerna offers the proprietary Alpha ID Confirm screening test, a comprehensive reflex-based method that includes alpha-1 antitrypsin (A1AT) levels and a targeted genetic test assessing 14 common and rare alleles in the SERPINA1 gene using Progenika’s FDA-cleared A1AT Genotyping Test. In some cases, next-generation sequencing of the exonic regions of the SERPINA1 gene will be assessed if the A1AT levels and targeted genetic testing results are not consistent with expected levels. This allows for the detection of additional known and unknown genetic variations that impact A1AT levels that are not included in the Progenika assay.

The AlphaID Confirm test utilizes capillary blood spotted onto a Whatman® 903 card. Alpha ID is a comprehensive test to help physicians achieve an accurate diagnosis of Alpha-1 antitrypsin deficiency (A1ATD). Biocerna has partnered with Grifols, a leader in the plasma protein therapeutics industry, since to offer the AlphaID and AlphaID Confirm tests to physicians and their patients. 

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What's alpha-1

Alpha-1 antitrypsin deficiency (A1AD) 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