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

R28

Congenital malformation and dysmorphism syndromes – microarray only

Test Group

Core

Test code

R28.1

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Microarray

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly suggestive of a chromosomal cause, for example individuals with features characteristic of Williams syndrome

Commissioning group

Core

Overlapping idications

• R27 Congenital malformation and dysmorphism syndromes – likely monogenic test should be used instead where the likelihood of a chromosomal cause is lower • R26 Likely common aneuploidy test should be used where clinical features are strongly suggestive of trisomy 13, 18 or 21, Turner syndrome or other sex chromosome aneuploidy

Address for samples/request forms

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

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