Abstract
Introduction: Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed genetic condition caused by reduced levels of AAT protein and may result in increased risk of lung and/or liver disease.
The A1AT Genotyping Test is a PCR and hybridization-based in vitro diagnostic assay using Luminex technology for the simultaneous detection of 14 clinically relevant AATD variants: S, Z, I, F, Mprocida, Mmalton, Siiyama, Q0granite falls, Q0west, Q0bellingham, Plowell, Q0mattawa, Q0clayton and Mheerlen. It was FDA cleared and CE marked for use with blood samples.
Objective: To evaluate the performance of the A1AT Genotyping Test with saliva samples collected with ORAcollect·Dx OCD-100 devices (DNAGenotek).
Methods: Saliva samples were processed with the A1AT Genotyping Test, using bidirectional sequencing (BDS) as a reference method:
- Accuracy was tested by analyzing 147 samples representing all genotypes interrogated by the test.
- Sample stability and 3 different DNA extraction methods were validated: lysis and neutralization solutions (Sigma), QIAamp DNA Blood Mini Kit and QIAsymphony DNA Mini Kit (Qiagen).
- The effect of potential endogenous, exogenous and microbial interferences present in saliva was tested.
Results: The assay showed 100% concordance with BDS results. 100% correct genotypes were obtained for all DNA extraction methods. No inhibition was observed for the interfering substances tested when sample collection instructions are followed.
Conclusion: Saliva samples collected with ORAcollect·Dx devices have been validated for the A1AT Genotyping Test yielding accurate and robust results, which will facilitate diagnosis of AATD. It is FDA cleared and CE marked for use with saliva samples for prescription use only.
Footnotes
Cite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 2192.
This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.
This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).
- Copyright ©the authors 2020