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

R28

Congenital malformation and dysmorphism syndromes – microarray only

Test Group

Core

Specialties

Clinical Genetics Paediatrics Metabolic Medicine Neonatology Neurology

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

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

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