How many genes are included in the whole exome sequencing platform? And importantly, how well are the genes covered and how is this demonstrated?

This guide aims to give insight to why different quality numbers matter and how they translate to the clinic. This guide includes case examples, and will provide a quick and easy checklist for quality when choosing a testing platform.

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A quick and easy checklist for quality testing platforms

• High-quality sequencing platform with >20X coverage across >99.4% of targets
• Publicly available analytic validation that demonstrates sensitivity to detect SNVs, indels, and CNVs across all genes
• Inclusion of disease-causing deep intronic variants
• High-quality bioinformatics pipeline and rigorous variant interpretation
• Clinical statement that includes all data and evidence used to evaluate variants
• Competitive turnaround time and price

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