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A1AT Genotyping Test
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 |
|---|---|---|
| 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) |
*The most frequent associated allele is highlighted.
This information is intended for physicians and healthcare professionals only.
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