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.

Fetus with a likely chromosomal abnormality

Clinical Indication ID & Name

R22

Fetus with a likely chromosomal abnormality

Test Group

Core

Test code

R22.1

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Common aneuploidy testing

Optimal Family Structure

n/a

Eligibility Criteria

Fetus with a likely chromosomal abnormality
This indication is relevant in ongoing pregnancies and where there has been fetal loss, termination of pregnancy or miscarriage

Test code

R22.2

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Microarray

Optimal Family Structure

n/a

Eligibility Criteria

Fetus with a likely chromosomal abnormality
This indication is relevant in ongoing pregnancies and where there has been fetal loss, termination of pregnancy or miscarriage

Commissioning group

Core

Overlapping idications

• R26 Likely common aneuploidy should be used where only common aneuploidy testing is indicated • R21 Fetal anomalies with a likely genetic cause test should be used instead following discussion with a Clinical Geneticist where it is considered more appropriate • R318 Recurrent miscarriage with products of conception available for testing can be used where there has been recurrent miscarriage in the absence of additional features suggestive of chromosomal abnormality

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

n/a

Education resources

n/a

Service updates

n/a

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form