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.

Fetal anomalies with a likely genetic cause – non urgent

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

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

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form