Clinical Indication ID & Name
Apert syndrome
Test Group
Musculoskeletal
Specialties
Test code
R23.1
Test name
N/A
Target genes
FGFR2 c.755 and c.758
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of Apert syndrome, including both craniosynostosis and syndactyly of the hands and feet, with or without additional features
Commissioning group
Highly Specialised
Overlapping idications
• R306 NIPD for Apert syndrome - mutation testing • R99 Common craniosynostosis syndromes or R100 Rare syndromic craniosynostosis or isolated multisuture synostosis 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
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