Genetic Test Details

Thanatophoric Dysplasia (Type I & II)

Test Information

Title
Thanatophoric Dysplasia (Type I & II)
Lab
The Hospital for Sick Children
Category
Skeletal\Growth
Sub Category
Thanatophoric Dysplasia
Gene/Platform/Region List
FGFR2, FGFR3, TWIST1
Test type
Gene Panel
Samples Accepted
DNA , Blood
Indications
Diagnosis , Prenatal
Test Methodology
Sequencing , CNV
Methodology Notes
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of FGFR2, FGFR3 and TWIST1
Disease/Condition
Skeletal Dysplasias: Thanatophoric Dysplasia

Last Updated: June 23, 2025

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