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

R100

Rare syndromic craniosynostosis or isolated multisuture synostosis

Test Group

Musculoskeletal

Specialties

Clinical Genetics

Test code

R100.1

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Microarray

Optimal Family Structure

n/a

Eligibility Criteria

Rare syndromic craniosynostosis syndrome or isolated multisuture synostosis, confirmed by skull scan where possible

Mutations in EFNB1, ERF, FGFR1 common hot spots, FGFR2 common hot spots, FGFR3 common hot spots, TCF12 or TWIST1 must have been excluded on targeted genetic testing (R99 Common craniosynostosis syndromes)

Test code

R100.2

Test name

N/A

Target genes

Craniosynostosis (168)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Rare syndromic craniosynostosis syndrome or isolated multisuture synostosis, confirmed by skull scan where possible

Mutations in EFNB1, ERF, FGFR1 common hot spots, FGFR2 common hot spots, FGFR3 common hot spots, TCF12 or TWIST1 must have been excluded on targeted genetic testing (R99 Common craniosynostosis syndromes)

Commissioning group

Highly Specialised

Overlapping idications

• R99 Common craniosynostosis syndromes should be used where features are consistent with mutations in EFNB1, ERF, FGFR1 common hot spots, FGFR2 common hot spots, FGFR3 common hot spots, TCF12 or TWIST1

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