The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Clinical Indication ID & Name

R23

Apert syndrome

Test Group

Musculoskeletal

Specialties

Clinical Genetics

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool