9085

GTD Indications Diagnosis Prenatal GTD Samples Accepted Blood DNA GTD Test Methodology CNV Sequencing GTD Methodology Notes Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of FGFR2, FGFR3 and TWIST1 Generic Test name (cms title) Thanatophoric Dysplasia GTD Test type Gene Panel GTD Location The Hospital for Sick Children GTD Gene/Platform/Region List FGFR2, FGFR3, TWIST1 GTD Category Skeletal/growth GTD Disease/Condition Skeletal Dysplasias: Thanatophoric Dysplasia