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Genotyping Test Overview

Alpha-1 antitrypsin deficiency (AATD)

AATD is a hereditary disorder.

  • Associated with an increased risk of developing pulmonary and/or liver disease
  • The American and European Thoracic/Respiratory Societies (ATS/ERS) recommend that all chronic obstructive pulmonary disease (COPD) patients be tested for AATD
  • AATD remains underdiagnosed

A1AT Genotyping Test

Simultaneous multiplex reaction in a single well.

  • Combination of reagents and software
  • High-throughput 192 tests
  • Based on Luminex technology
  • Automatic generation of reports
  • LIS connectivity
  • Validated on saliva, dry blood spot, and whole blood samples

Genotyping Test Overview Table

14 allelic variants detected

Detect 14 of the most prevalent allelic variants associated with AATD.
First genetic IVD test for aid in AATD diagnosis cleared by FDA and CE marked
Allelic Variant Associated Alleles* Predicted Protein Activity
RefSeq: NM:001127701.1    
c.187C>T PI*I Reduced (mild)
c.194T>C PI* M procida Reduced (severe)
c.226_228delTTC PI* M malton, PI* M palermo, PI* M nichinan Reduced (severe)
c.230C>T PI* S iiyama Reduced (severe)
c.552delC PI* Q0 granite falls None (no protein)
c.646+1G>T PI* Q0 west None (no protein)
c.721A>T PI* Q0 bellingham None (no protein)
c.739C>T PI* M procida Reduced (mild)
c.839A>T PI* F Reduced (mild)
c.863A>T PI* P lowell, PI* duarte, PI* Q0 Cardiff, PI* Y barcelona Reduced (mild)
c.1096G>A PI*Z, PI* Z augsburg Reduced (severe)
c.1130dupT PI* Q0 Clayton, PI* Q0 ourem None (no protein)
c.1158dupC PI* Q0 Clayton PI* Q0 saarbruecken None (no protein)
c.1178C>T PI* M heerlen Reduced (severe)

Genotyping Test Table Disclaimer

*The most frequent associated allele is highlighted.

Diagnostics Disclaimer

This information is intended for physicians and healthcare professionals only.

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