Thanatophoric Dysplasia (Type I & II)

Test Information

Title
Thanatophoric Dysplasia (Type I & II)
Lab
Category
Skeletal growth
Test Name (CMS Title)
Thanatophoric Dysplasia
Gene/Platform/Region List
FGFR2, FGFR3, TWIST1
Test type
Samples Accepted
Blood, DNA
Indications
Diagnosis
Test Methodology
Sequencing
Methodology Notes
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of FGFR2, FGFR3 and TWIST1
Disease/Condition
Skeletal Dysplasias: Thanatophoric Dysplasia

Last Updated: November 14, 2025

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