1019

GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood DNA Cultured Cells Amniocyte GTD Test Methodology PCR +/- Southern Blot GTD Methodology Notes CGG Repeat Generic Test name (cms title) Fragile X Syndrome GTD Test type Single Gene GTD Location Children's Hospital of Eastern Ontario GTD Gene/Platform/Region List FMR1 GTD Category Neurodevelopmental GTD Disease/Condition Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, Martin-Bell syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary Ovarian Insufficiency (FXPOI), FMR1-related premature ovarian failure, FMR1 primary ovarian insufficiency