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

R306

NIPD for Apert syndrome - mutation testing

Test Group

NIPD

Specialties

Clinical Genetics Fetal Medicine

Test code

R306.1

Test name

N/A

Target genes

FGFR2

Test scope

n/a

Test method/ technology

NIPD

Optimal Family Structure

n/a

Eligibility Criteria

Pregnancy in which NIPD for Apert syndrome is required
Either:
1. Abnormal ultrasound findings suggestive of Apert syndrome with acrocephaly, proptosis AND
symmetrical syndactyly, OR
2. At risk pregnancy due to paternal Apert syndrome OR a previous pregnancy with confirmed Apert syndrome

Commissioning group

Specialised

Overlapping idications

n/a

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

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form 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