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

R26

Likely common aneuploidy

Test Group

Core

Specialties

Clinical Genetics Paediatrics Neonatology

Test code

R26.1

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Common aneuploidy testing

Optimal Family Structure

n/a

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

Core

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form 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