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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

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

This indication is relevant to:
• ongoing pregnancies OR
• where there has been fetal loss, termination of pregnancy or miscarriage, accompanied by additional features suggestive of chromosome abnormality OR
• death or still birth from 24 weeks and in the absence of other likely causes

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

This indication is relevant to:
• ongoing pregnancies OR
• where there has been fetal loss, termination of pregnancy or miscarriage, accompanied by additional features suggestive of chromosome abnormality OR
• death or still birth from 24 weeks and in the absence of other likely causes

Commissioning group

Core

Overlapping idications

• R401 Common aneuploidy testing – prenatal or 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 where it is considered more appropriate and following discussion with a Clinical Geneticist • 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 • R27 Paediatric disorders or R412 Fetal anomalies with a likely genetic cause - non urgent, should be used for non-urgent testing (e.g. where there is miscarriage, imminent fetal loss, or termination of pregnancy) in cases of fetal anomaly with likely genetic cause Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.

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/

Consent record

See consent guidance in test request form

Sample requirements

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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