
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