Clinical Indication ID & Name
Rare syndromic craniosynostosis or isolated multisuture synostosis
Test Group
Musculoskeletal
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form