Overgrowth and macrocephaly syndromes are a heterogeneous group of genetic disorders characterized by generalized or segmental overgrowth, macrocephaly, and variable developmental, cutaneous, vascular, and other systemic manifestations. Some conditions are also associated with increased tumor risk or somatic mosaicism.

This panel includes genes associated with major pathways involved in growth regulation, including PI3K-AKT-mTOR signaling, RAS-MAPK signaling, genomic imprinting, and chromatin regulation. It covers disorders such as PTEN hamartoma tumor syndrome, Sotos syndrome, Beckwith-Wiedemann spectrum, PIK3CA-related overgrowth spectrum, and other syndromic or mosaic overgrowth conditions.

This panel is recommended for patients with generalized or segmental overgrowth and/or macrocephaly, particularly when accompanied by developmental delay or autism spectrum features, vascular or skin abnormalities, congenital anomalies, or features suggesting tumor predisposition.