Request / Find a Test Tool

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.

Congenital malformation and dysmorphism syndromes – microarray only

Clinical Indication ID & Name


Congenital malformation and dysmorphism syndromes – microarray only

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology


Optimal Family Structure


Eligibility Criteria

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

Commissioning group


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

Supporting documents


Education resources


Service updates


Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form