
9001
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
Generic Test name (cms title)
Achondroplasia and Hypochondroplasia
GTD Test type
Gene Panel
GTD Location
The Hospital for Sick Children
GTD Gene/Platform/Region List
FGFR1, FGFR2, FGFR3, TWIST1
GTD Category
Skeletal/growth
GTD Disease/Condition
Skeletal dysplasia, Achondroplasia, Hypochondroplasia