GeneDx now offers full sequencing and deletion/duplication testing of two additional genes associated with overgrowth syndromes:

1. NSD1  testing for Sotos syndrome
2. GPC3  testing for Simpson-Golabi-Behmel syndrome

The addition of these two new genes expands our growing test menu for genetic disorders associated with pre- and postnatal overgrowth.  GeneDx also offers testing for mutations in the PTCH gene associated with Gorlin syndrome and for PTEN-related disorders, including Bannayan-Riley-Ruvalcaba syndrome and macrocephaly/autism spectrum disorders.