A1AT Genotyping Test
Ref. GRF-A1AT-GENOTYPING-TESTDesigned to simultaneously detect 14 of the most prevalent allelic variants associated with alpha-1 antitrypsin deficiency.
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.
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 Characteristics
| Type of samples | Noninvasive samples; Saliva; Whole blood; Dry 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. |
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