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 …
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 …