Thanatophoric Dysplasia


Thanatophoric Dysplasia, a sporadic neonatal lethal skeletal dysplasia, is divided into two subsets based upon radiological findings. Mutations in the FGFR3 gene on chromosome 4 have been identified in almost 100% of confirmed cases of TD

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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

For additional information please click on the link

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1mls EDTA Neonate

Reference range

Not applicable

Turnaround time

20 days

Disease / group

FGFR3 (Thanatophoric Dysplasia)


Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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