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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

R401

Common aneuploidy testing - prenatal

Test Group

Core

Specialties

Clinical Genetics Fetal Medicine Obstetrics

Test code

R401.1

Test name

Common aneuploidy testing - prenatal

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Common aneuploidy testing

Optimal Family Structure

n/a

Eligibility Criteria

Prenatal findings requiring common aneuploidy testing including:
1. abnormal first trimester combined screening, OR
2. characteristic findings of a common aneuploidy on ultrasound scan

Commissioning group

Core

Overlapping idications

• R22 Fetus with a likely chromosomal abnormality after a second trimester loss where there are fetal anomalies and all third trimester fetal losses (IUD or stillbirth), OR • R21 Fetus with a likely genetic cause

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

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
Sample Storage and Volume Required: DNA sample (2μg), amniotic fluid in a dry sterile container (20ml), CVS (20mg please discuss with the laboratory)
Storage, sample packing and transportation: Please notify the laboratory before sending prenatal samples by e-mailing gst-tr.viapathgeneticsadmin@nhs.net. All prenatal samples must arrive in the laboratory on the day of sampling, preferably before 3pm.
Patient/Clinician Instructions: Patient information and consent: Please ensure patient consent is obtained prior to the sample being sent to the laboratory for prenatal SNP array (please note patient consent forms should be stored and should NOT be sent to the laboratory). Referral information required: Referral form and ultrasound report (please note an ultrasound report is MANDATORY for samples requiring prenatal SNP array)