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
|Allelic Variant||Associated Alleles*||Predicted Protein Activity|
|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)|
*The most frequent associated allele is highlighted.
This information is intended for physicians and healthcare professionals only.
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