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

R412

Fetal anomalies with a likely genetic cause - non urgent

Test Group

Specialised

Specialties

Clinical Genetics

Test code

R412.1

Test name

N/A

Target genes

Fetal anomalies (478)

Test scope

n/a

Test method/ technology

WES or Large Panel

Optimal Family Structure

n/a

Eligibility Criteria

Fetus from a demised/non-continued pregnancy, with multiple major structural abnormalities detected on
fetal ultrasound or post-mortem examination (by autopsy, imaging, metabolic and/or histological tests) and where multidisciplinary review(clinical genetics, tertiary fetal medicine specialists, clinical scientists and, where appropriate, relevant paediatric specialists) consider a monogenic malformation disorder is likely.

Only for cases where it is not possible to test by WGS via R27 (e.g. when there is insufficient DNA for WGS).

Testing should be primarily targeted to those families for which this test may influence future pregnancies.

For more detailed guidance for R412, outlined in the non-urgent fetal exome service guidance documentation, please contact your local Genomic Laboratory Hub.

Test code

R412.2

Test name

N/A

Target genes

Fetal anomalies (478)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Fetus from a demised/non-continued pregnancy, with multiple major structural abnormalities detected on
fetal ultrasound or post-mortem examination (by autopsy, imaging, metabolic and/or histological tests) and where multidisciplinary review(clinical genetics, tertiary fetal medicine specialists, clinical scientists and, where appropriate, relevant paediatric specialists) consider a monogenic malformation disorder is likely.

Only for cases where it is not possible to test by WGS via R27 (e.g. when there is insufficient DNA for WGS).

Testing should be primarily targeted to those families for which this test may influence future pregnancies.

For more detailed guidance for R412, outlined in the non-urgent fetal exome service guidance documentation, please contact your local Genomic Laboratory Hub.

Commissioning group

Specialised

Overlapping idications

• R27 Congenital malformation and dysmorphism syndromes should be used for non-urgent testing e.g. where there is imminent fetal loss or termination of pregnancy, or miscarriage has already occurred • R14 Acutely unwell children with a likely monogenic disorder, if there is an ongoing unaffected pregnancy and testing is urgent, R14 would be appropriate. • R21 Fetal anomalies with a likely genetic cause, should be used for ongoing pregnancies where a molecular diagnosis would change clinical management.

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