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Detect More Mutations and Improve Variant Classification with RNA Genetic Testing

Provide Clinically Actionable Results to More Patients

Decrease Variants of Unknown Significance

Increase Diagnostic Yield

RNA Genetic Testing Decreases Variants of Unknown Significance1

3 years of Experience in Ambry's Translational Genomics (ATG) Lab
RNA Genetic Testing Decreases Variants of Unknown Significance 20 0 N=64 variants impacting 504 patients % of variants tested in ATG lab 100 80 60 40 Classification Pre-RNATesting Post-RNATesting 87.5% 12.5% 35.9% 14.1% 43.8% 6.2% Pathogenic Variant, likely pathogenic Variant, Unknown Significance Variant, likely benign

RNA genetic testing will empower healthcare providers to confidently counsel patients with greater knowledge as they face difficult health decisions. With the addition of RNA, we will be able to identify new mutations, more accurately classify variants, and decrease variants of unknown significance resulting in clear, actionable results for more patients and their families.

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1. Karam et al. RNA Genetic Testing in Hereditary Cancer Improves Variant Classification and Patient Management. ACMG 2019.

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