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 variant 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 - variant 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
Please refer to the test request form.
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
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.