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

R307

NIPD for Crouzon syndrome with acanthosis nigricans - variant testing

Test Group

NIPD

Specialties

Clinical Genetics Fetal Medicine

Test code

R307.1

Test name

N/A

Target genes

FGFR3

Test scope

n/a

Test method/ technology

NIPD

Optimal Family Structure

n/a

Eligibility Criteria

Pregnancy in which NIPD for Crouzon syndrome with acanthosis nigricans is required due to paternal Crouzon syndrome with acanthosis nigricans and the variant is confirmed OR a previous pregnancy with confirmed Crouzon syndrome with acanthosis nigricans with variant confirmed

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Please refer to the test request form.

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

Form not available, please contact us to enquire.

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

Request / Find a test tool