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
Convenient
Test a high-throughput with up to 192 tests validated on saliva, dry blood spot and whole blood samples.
Innovative technology
Test with a combination of reagents and software based on innovative luminex technology and get automated reports.
Allelic Variant
RefSeq: NM:001127701.1
- Associated Alleles*
- Predicted Protein Activity
c.187C>T
- Associated Alleles*
-
PI*I
- Predicted Protein Activity
-
Reduced (mild)
c.194T>C
- Associated Alleles*
-
PI* M procida
- Predicted Protein Activity
-
Reduced (severe)
c.226_228delTTC
- Associated Alleles*
-
PI* M malton, PI* M palermo, PI* M nichinan
- Predicted Protein Activity
-
Reduced (severe)
c.230C>T
- Associated Alleles*
-
PI* S iiyama
- Predicted Protein Activity
-
Reduced (severe)
c.552delC
- Associated Alleles*
-
PI* Q0 granite falls
- Predicted Protein Activity
-
None (no protein)
c.646+1G>T
- Associated Alleles*
-
PI* Q0 west
- Predicted Protein Activity
-
None (no protein)
c.721A>T
- Associated Alleles*
-
PI* Q0 bellingham
- Predicted Protein Activity
-
None (no protein)
c.739C>T
- Associated Alleles*
-
PI* M procida
- Predicted Protein Activity
-
Reduced (mild)
c.839A>T
- Associated Alleles*
-
PI* F
- Predicted Protein Activity
-
Reduced (mild)
c.863A>T
- Associated Alleles*
-
PI* P lowell, PI* duarte, PI* Q0 Cardiff, PI* Y barcelona
- Predicted Protein Activity
-
Reduced (mild)
c.1096G>A
- Associated Alleles*
-
PI*Z, PI* Z augsburg
- Predicted Protein Activity
-
Reduced (severe)
c.1130dupT
- Associated Alleles*
-
PI* Q0 Clayton, PI* Q0 ourem
- Predicted Protein Activity
-
None (no protein)
c.1158dupC
- Associated Alleles*
-
PI* Q0 Clayton PI* Q0 saarbruecken
- Predicted Protein Activity
-
None (no protein)
c.1178C>T
- 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
A1AT Genotyping Test
Product Detail
Type of samples
- Specification
-
- Noninvasive samples
- Saliva
- Whole blood
- Dry blood spot (DBS)
- Genomic DNA
Workflow
- 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
Software included
- 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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