14 allelic variants detected
Detect 14 of the most prevalent allelic variants associated with AATD.
Clinical diagnostics
A1AT Genotyping Test
Designed to simultaneously detect 14 of the most prevalent allelic variants associated with alpha-1 antitrypsin deficiency.
A1AT Genotyping Test
The American and European Thoracic/Respiratory Societies (ATS/ERS) recommend that all chronic obstructive pulmonary disease (COPD) patients be tested for AATD as AATD remains highly underdiagnosed. Test for simultaneous multiplex reaction in a single well.
Main benefits
Allelic Variant
- Associated Alleles*
- Predicted Protein Activity
- Associated Alleles*
PI*I
- Predicted Protein Activity
Reduced (mild)
- Associated Alleles*
PI* M procida
- Predicted Protein Activity
Reduced (severe)
- Associated Alleles*
PI* M malton, PI* M palermo, PI* M nichinan
- Predicted Protein Activity
Reduced (severe)
- Associated Alleles*
PI* S iiyama
- Predicted Protein Activity
Reduced (severe)
- Associated Alleles*
PI* Q0 granite falls
- Predicted Protein Activity
None (no protein)
- Associated Alleles*
PI* Q0 west
- Predicted Protein Activity
None (no protein)
- Associated Alleles*
PI* Q0 bellingham
- Predicted Protein Activity
None (no protein)
- Associated Alleles*
PI* M procida
- Predicted Protein Activity
Reduced (mild)
- Associated Alleles*
PI* F
- Predicted Protein Activity
Reduced (mild)
- Associated Alleles*
PI* P lowell, PI* duarte, PI* Q0 Cardiff, PI* Y barcelona
- Predicted Protein Activity
Reduced (mild)
- Associated Alleles*
PI*Z, PI* Z augsburg
- Predicted Protein Activity
Reduced (severe)
- Associated Alleles*
PI* Q0 Clayton, PI* Q0 ourem
- Predicted Protein Activity
None (no protein)
- Associated Alleles*
PI* Q0 Clayton PI* Q0 saarbruecken
- Predicted Protein Activity
None (no protein)
- Associated Alleles*
PI* M heerlen
- Predicted Protein Activity
None (no protein)
| 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 |
None (no protein) |
Product specifications
Product Detail
- Specification
- Noninvasive samples
- Saliva
- Whole blood
- Dry blood spot (DBS)
- Genomic DNA
- Specification
- High-throughput 192 tests (reagents and software)
- Standardized on widely established Luminex technology
- Results in 1 day shift
- Walkaway systems
- 4.5h per run
- 0.5h hands-on time
- Specification
- Automatic generation of reports
- LIS connectivity
| Product Detail | Specification |
|---|---|
|
Type of samples |
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Workflow |
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Software included |
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