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

R284

Van der Woude syndrome

Test Group

Musculoskeletal

Specialties

Test code

R284.1

Test name

N/A

Target genes

IRF6

Test scope

n/a

Test method/ technology

Single gene sequencing <10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly suggestive of van der Woude syndrome.

Commissioning group

Specialised

Overlapping idications

• R27 Congenital malformation and dysmorphism syndromes – likely monogenic test should be used in individuals with cleft palate with a likely complex syndromic cause

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/

Consent record

See consent guidance in test request form

Sample requirements

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