Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R22

Fetus with a likely chromosomal abnormality

Test Group

Core

Specialties

Clinical Genetics Fetal Medicine Pathology

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 (three or more consecutive miscarriages) 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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old