AlphaID CONFIRM

Biocerna offers the comprehensive Alpha ID CONFIRM screening, a trio of reflex-based A1AT deficiency tests that includes:

1) Progenika’s FDA-cleared A1AT Genotyping Test - a targeted genetic test assessing 14 common and rare alleles in the SERPINA1 gene

2) Alpha-1 antitrypsin (A1AT) protein levels which utilizes FDA-cleared reagents and platform

3) Next-generation sequencing (NGS) of the exonic and splice site 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 may impact A1AT levels or protein function 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 to offer the AlphaID and AlphaID Confirm tests to physicians and their patients. 

What is 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