Clinical Indication ID & Name
Common craniosynostosis syndromes
Test Group
Musculoskeletal
Specialties
Test code
R99.1
Test name
N/A
Target genes
Common craniosynostosis syndromes (507)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Recognisable multisuture craniosynostosis syndromes consistent with mutations in EFNB1, ERF, FGFR1 common hot spots, FGFR2 common hot spots, FGFR3 common hot spots, TCF12 or TWIST1 or with unicoronal or bicoronal craniosynostosis
Test code
R99.2
Test name
N/A
Target genes
Common craniosynostosis syndromes (507)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Recognisable multisuture craniosynostosis syndromes consistent with mutations in EFNB1, ERF, FGFR1 common hot spots, FGFR2 common hot spots, FGFR3 common hot spots, TCF12 or TWIST1 or with unicoronal or bicoronal craniosynostosis
Commissioning group
Highly Specialised
Overlapping idications
• R100 Rare syndromic craniosynostosis or isolated multisuture synostosis test should be used where features are not 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