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