GTD Indications
Diagnosis
Carrier / Cascade Testing
Prenatal
GTD Samples Accepted
Blood
DNA
Cultured Cells
Amniocyte
CVS
GTD Test Methodology
PCR
GTD Methodology Notes
Promoter Region, CGG Expansion
Generic Test name (cms title)
Fragile X Syndrome
GTD Test type
Single Gene
GTD Location
Kingston General Hospital
GTD Gene/Platform/Region List
FMR1
GTD Category
Neurodevelopmental
GTD Disease/Condition
Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, and 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