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.

Likely common aneuploidy

Clinical Indication ID & Name


Likely common aneuploidy

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology

Common aneuploidy testing

Optimal Family Structure


Eligibility Criteria

Clinical features strongly suggestive of trisomy 13, 18 or 21, Turner syndrome or other sex chromosome aneuploidy in the postnatal setting

Commissioning group


Overlapping idications

• R297 Possible structural chromosomal rearrangement – karyotype, • R265 Chromosomal mosaicism – karyotype, • R314 Ambiguous genitalia presenting neonatally; plus any other follow-on tests should be considered in cases with a negative result • R401 Common aneuploidy testing - prenatal test should be used for prenatal testing

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


Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form