Pre-implantation Genetic Testing on Ion Torrent™ PGM™ System Alain Rico FALCON team Global Clinical Research Program Manager Picture: www.bio-itworld.com

Described* Pre-implantation Genetic Testing workflow on Ion Torrent™ PGM™ System [email protected]

< 24 hours workflow

– 15 hours (3 hours hands on) – 3 hours total WGA

70 € per embryo

– 32 embryos per run – The cost of reagents will reduce over time

Same run, more info

– Aneuploidy – Mitochondrial genome – Mutations * user data. Wells et al., submitted

Described* Pre-implantation Genetic Testing Workflow on Ion PGM ™ system Picture: www.bio-itworld.com

* user data. Wells et al., submitted

Select Cell(s) Ion OneTouch™ 2 Whole Genome Amplification used for Fragment library (100 bp insert) + Target specific amplico n Ion 316™ Chip Up to 32 embryos 100 bp reads Custom Script or Ion Reporter™

Day 1 1pm O/N Day 2 1pm

Ion PGM™ 150K reads Single Cell (Low Pass) Whole Genome CNV Analysis aCGH Data courtesy Wells et al., submitted

Ion Reporter™ Software Detect chromosomal aberrations with built-in informatics baseline controls 1 Low-pass whole-genome sequencing 2 Analyze with aneuploidy workflow 3 Visualize aneuploidy through customize IGV karyotype view 4 Create your interpretive report

Sample 1: -5, -22 Ion Reporter™ Software Average of 0.01X coverage per sample – 100% concordance with aCGH Data courtesy Dr Fiorentino , 10plex on Ion 316™ chip

Ion Reporter™ Software Sample 2 : -13, +14, +15 Average of 0.01X coverage per sample – 100% concordance with aCGH Data courtesy Dr Fiorentino , 10plex on Ion 316™ chip

Mitochondrial genome IGV data courtesy Wells et al., submitted

Pre-implantation Genetic Diagnosis Ex: CFTR carrier typing IGV data courtesy Wells et al., submitted

www.lifetechnologies.com/aneuploidy Listen to Prof. Wells www.youtube.com/iontorrent Interview on BBC Radio 4 http://www.guardian.co.uk/science/ 2013/jul/07/ivf-baby-born-genetic screening Mapping the genes of a baby before implantation New Genetic Test May Boost IVF Results First Child Born Following Embryo Screening With New Genome Analysis Technique

Limitations and Disclaimers For Research Use Only. Not for use in diagnostic procedures.

Limitations and Disclaimer: Life Technologies Corporation takes no corporate position on the use of selection methods in IVF and prenatal settings though we acknowledge that people disagree about its appropriate use and it should ALWAYS be provided with full and informed, non-coerced prior informed consent.

The PGM™ System and equipment used herein is RUO marked and may not be GMP. The results shown may not represent actual performance in an IVF or any other setting. LTC does not assure or endorse the use of its methods in ANY clinical setting outside of those that have been reviewed by the FDA or similar oversight body.

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