Thanatophoric Dysplasia


Description

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


Request a test

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

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1mls EDTA Neonate


Reference range

Not applicable


Turnaround time

20 days


Disease / group

FGFR3 (Thanatophoric Dysplasia)


Cost

Upon request


Call in advance?

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


Genetics

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

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