SNP Interpretation Guide

This SNP Array Interpretation Guide was produced by Timothy Fee, PhD as a resource for laboratory diagnosticians involved in SNP array analysis. It covers the main types of aberrations visible on SNP array as well as more complex mosaic situations. This work was presented (virtually) at the American Cytogenetics Conference in June 2021.

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...

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