SHORT STATURE: CLINICAL EXOME PANEL (Sec. & CNVs) - 198 genes

The Short Stature Panel is designed for the genetic diagnosis of isolated and syndromic skeletal growth and development disorders that can manifest as disproportionate short stature, bone dysplasias, craniofacial anomalies, endocrine disorders, or delayed bone maturation. This study addresses a wide range of genetic causes affecting bone, cartilage, and hormonal growth, allowing for a comprehensive evaluation of pediatric or adult patients with unexplained short stature. The main diseases assessed include skeletal dysplasias such as achondroplasia, hypochondroplasia, and spondyloepiphyseal dysplasia (FGFR3, COL2A1, COMP, MATN3); growth hormone resistance syndromes and GH deficiency (GHR, GHRHR, IGF1, IGF1R, STAT5B); Facial dysmorphism and short stature syndromes such as Rubinstein-Taybi (CREBBP, EP300), Noonan, Costello, and CFC (PTPN11, KRAS, SOS1, RAF1, HRAS, BRAF); Cornelia de Lange syndrome (NIPBL, RAD21, SMC1A); 3-M syndrome (CCDC8, CUL7, OBSL1); DNA repair syndromes and metabolic bone dysplasias (WRN, BLM, ERCC, CRTAP, P3H1), among others. The panel includes genes involved in bone formation and remodeling, growth hormone signaling, and cell cycle regulation, making it a highly useful clinical tool for establishing a precise molecular diagnosis and guiding endocrinological and genetic management. Key genes analyzed: FGFR3, GHR, IGF1, IGF1R, SHOX, STAT5B, PTPN11, RAF1, KRAS, BRAF, CREBBP, EP300, COL1A1, COL2A1, COMP, MATN3, NIPBL, WRN, and others. You can consult the complete panel of genes studied by contacting Genotica.