Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R25

Thanatophoric dysplasia

Test Group

Core

Specialties

Clinical Genetics Fetal Medicine

Test code

R25.1

Test name

N/A

Target genes

FGFR3

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly suggestive of thanatophoric dysplasia.

Commissioning group

Core

Overlapping idications

• R309 NIPD for FGFR3-related skeletal dysplasias - mutation testing • R104 Skeletal dysplasia test should be used where features are atypical and a broader range of genes are likely to be causative

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old