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Order or find a test

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

Clinical Indication ID & Name

R416

Syndromic and non syndromic craniosynostosis involving midline sutures only

Test Group

Musculoskeletal

Specialties

Clinical Genetics Neurology

Test code

R416.1

Test name

N/A

Target genes

SMAD6

Test scope

n/a

Test method/ technology

Single gene sequencing <10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

1. Patients presenting with confirmed craniosynostosis involving/including the metopic suture (trigonocephaly), OR
2. Sagittal suture, OR
3. both sagittal and metopic sutures.

Commissioning group

Highly Specialised

Overlapping idications

• R100 Rare syndromic craniosynostosis or isolated multisuture synostosis

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

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.