OVERGROWTH AND MACROCEPHALUS: CLINICAL EXOME PANEL (Sec. & CNVs) – 107 genes

The Overgrowth and Macrocephaly Panel is designed for the molecular diagnosis of a broad spectrum of overgrowth and congenital macrocephaly syndromes, characterized by abnormally large body or head size, psychomotor developmental delay, intellectual disability, epilepsy, structural brain abnormalities, and an increased risk of benign and malignant tumors. Diseases evaluated include Sotos syndrome (NSD1), Weaver syndrome (EZH2), Beckwith-Wiedemann syndrome (CDKN1C, IGF2), Proteus syndrome (AKT1), Bannayan-Riley-Ruvalcaba syndrome (PTEN), Simpson-Golabi-Behmel syndrome (GPC3), capillary-cutaneous megalencephaly (PIK3CA, AKT3, mTOR), as well as disorders related to the PI3K/AKT/mTOR pathway, isolated overgrowth syndromes, and benign familial macrocephaly. The panel analyzes genes involved in the regulation of cell growth, neuronal proliferation, tissue differentiation, and cell cycle control, with relevance to the identification of germline or mosaic mutations that guide diagnosis, clinical management, and genetic counseling. Key genes analyzed include: NSD1, EZH2, PTEN, AKT1, AKT3, PIK3CA, PIK3R2, mTOR, CDKN1C, GPC3, GPC4, FGFR3, HRAS, KRAS, NRAS, NF1, NFIX, FBN1, DNMT3A, CHD8, TSC1, TSC2, and others. The complete panel of studied genes can be obtained by contacting Genotica.