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.

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noon...

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