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Why Consider an Exome-First Testing Workflow?

  • Bradley Power, MS, CGC
  • February 4, 2025

Overview  In the evolving world of genetic testing, the evaluation of children with rare disease and neurodevelopmental disorders has typically focused on two tests: chromosomal microarray (CMA) and exome sequencing. While both are highly valuable tests capable of uncovering underlying genetic conditions, there are currently mixed practices around …

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The Power of Progress: Philip's NF1 Clinical Trial Experience

  • Meagan Farmer
  • May 22, 2024

We had the opportunity to connect with Renie and Philip Moss ahead of Neurofibromatosis Awareness Month. Philip has neurofibromatosis type 1 (NF1). It is associated with many features but most often causes growths called neurofibromas (usually benign) as well as characteristic skin and eye findings.1 Malignant or cancerous tumors are rare.1 You …

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