A1AT Genotyping Test
Clinical Diagnostics

A1AT Genotyping Test

Ref. GRF-A1AT-GENOTYPING-TEST

Designed to simultaneously detect 14 of the most prevalent allelic variants associated with alpha-1 antitrypsin deficiency.

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About the Product

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.

14 allelic variants detected: Detect 14 of the most prevalent allelic variants associated with AATD.

Technical Characteristics

Type of samples Noninvasive samplesSalivaWhole bloodDry blood spot (DBS)Genomic DNA
Workflow
  • 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
  • Automatic generation of reports
  • LIS connectivity
Allelic variants - RefSeq NM:001127701.1
Allelic variant c.187C>T
  • Associated Alleles*: PI*I
  • Predicted Protein Activity: Reduced (mild)
Allelic variant c.194T>C
  • Associated Alleles*: PI* M procida
  • Predicted Protein Activity: Reduced (severe)
Allelic variant c.226_228delTTC
  • Associated Alleles*: PI* M malton, PI* M palermo, PI* M nichinan
  • Predicted Protein Activity: Reduced (severe)
Allelic variant c.230C>T
  • Associated Alleles*: PI* S iiyama
  • Predicted Protein Activity: Reduced (severe)
Allelic variant c.552delC
  • Associated Alleles*: PI* Q0 granite falls
  • Predicted Protein Activity: None (no protein)
Allelic variant c.646+1G>T
  • Associated Alleles*: PI* Q0 west
  • Predicted Protein Activity: None (no protein)
Allelic variant c.721A>T
  • Associated Alleles*: PI* Q0 bellingham
  • Predicted Protein Activity: None (no protein)
Allelic variant c.739C>T
  • Associated Alleles*: PI* M procida
  • Predicted Protein Activity: Reduced (mild)
Allelic variant c.839A>T
  • Associated Alleles*: PI* F
  • Predicted Protein Activity: Reduced (mild)
Allelic variant c.863A>T
  • Associated Alleles*: PI* P lowell, PI* duarte, PI* Q0 Cardiff, PI* Y barcelona
  • Predicted Protein Activity: Reduced (mild)
Allelic variant c.1096G>A
  • Associated Alleles*: PI*Z, PI* Z augsburg
  • Predicted Protein Activity: Reduced (severe)
Allelic variant c.1130dupT
  • Associated Alleles*: PI* Q0 Clayton, PI* Q0 ourem
  • Predicted Protein Activity: None (no protein)
Allelic variant c.1158dupC
  • Associated Alleles*: PI* Q0 Clayton PI* Q0 saarbruecken
  • Predicted Protein Activity: None (no protein)
Allelic variant c.1178C>T
  • Associated Alleles*: PI* M heerlen
  • Predicted Protein Activity: None (no protein)
* (table footnote) The most frequent associated allele is highlighted.

Key Features

  • 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.

Technical Information

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Compatibility

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Packaging

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