14 allelic variants detected
Detect 14 of the most prevalent allelic variants associated with AATD.
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INNOVATIVE DIAGNOSTIC SOLUTIONS
Designed to simultaneously detect 14 of the most prevalent allelic variants associated with alpha-1 antitrypsin deficiency.
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.
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.
Detect 14 of the most prevalent allelic variants associated with AATD.
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)
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) |
A1AT Genotyping Test
Type of samples
Workflow
Software included
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