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Stephanie A. Boccoz, Gaelle C. Le Goff, Celine A. Mandon, Benjamin P

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Presentation on theme: "Stephanie A. Boccoz, Gaelle C. Le Goff, Celine A. Mandon, Benjamin P"— Presentation transcript:

1 Development and Validation of a Fully Automated Platform for Extended Blood Group Genotyping 
Stephanie A. Boccoz, Gaelle C. Le Goff, Celine A. Mandon, Benjamin P. Corgier, Loïc J. Blum, Christophe A. Marquette  The Journal of Molecular Diagnostics  Volume 18, Issue 1, Pages (January 2016) DOI: /j.jmoldx Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Principle of HIFI technology. Patient sample composed of whole blood is lyzed and used for DNA extraction before multiplex amplification. Amplified DNA sequences corresponding to blood group are then hybridized on the Microwell microarray, then labeled for signal generation with the use of colorimetric imaging. Genotypes are listed in the table. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 Pscore distribution with the use of 174 samples (in ascending order) obtained for the validation study for Panel 1. Each color is assigned to a genotype determined by an independent reference technique, whereas gray zone Pscore areas correspond to each genotype (see calculation in Materials and Methods). Not determined samples are situated between two gray zones, outside of Pscore confidence intervals. Discrepant samples appear in the wrong color area. A: Kell system 578 T>C. B: Kell system 841T>C. C: Kidd system 838G>A. D: MNS system 59C>T. E: MNS system 143T>C. F: Duffy system 125G>A. G: Duffy system 265C>T. H: Duffy system −67T>C. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4 Figure 3 Pscore distribution with the use of 176 samples (in ascending order), obtained for the validation study for Panel 2. Each color is assigned to a genotype determined by an independent reference technique, whereas gray zones indicate Pscore areas corresponding to each genotype (see calculation in Materials and Methods). Not determined samples are situated between two gray zones, outside of Pscore confidence intervals. Discrepant samples appear in the wrong color area. A: Dombrock system 793A>G. B: Dombrock system 350C>T. C: Dombrock system 323G>T. D: Colton system 134C>T. E: Lutheran system 230A>G. F: Diego system 2561T>C. G: Cartwright system 1057C>A. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

5 Supplemental Figure S1 Pscore determination with the use of prevalidation (174 samples) study for Panel 1. Pscore limits are determined as to generate the minimum overlap between genotyping zones (see calculation in Materials and Methods). A: Kell system 578T>C. B: Kell system 841T>C. C: Kidd system 838G>A. D: MNS system 59C>T. E: MNS system 143T>C. F: Duffy system 125G>A. G: Duffy system 265C>T. H: Duffy system -67T>C. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

6 Supplemental Figure S2 Pscore determination with the use of pre-validation (174 samples) study for Panel 1. Pscore limits are determined as to generate the minimum overlap between genotyping zones (see calculation in Materials and Methods). A: Dombrock system 793A>G. B: Dombrock system 350C>T. C: Dombrock system 323G>T. D: Colton system 134C>T. E: Lutheran system 230A>G. F: Diego system 2561T>C. G: Cartwright system 1057C>A. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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