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.

Acutely unwell children with a likely monogenic disorder

Clinical Indication ID & Name


Acutely unwell children with a likely monogenic disorder

Test Group



Test code


Test name


Target genes

Trio gene agnostic or appropriate panels in singletons or duos

Test scope


Test method/ technology


Optimal Family Structure


Eligibility Criteria

Acutely unwell children with a likely monogenic disorder

For more detailed guidance for R14 outlined in “Guidance Document – Rapid Genome Sequencing for NICU-PICU Referrals” please contact your local Genomic Laboratory Hub.

Where clinical features and/or non genetic investigations are pathognomonic of a single
gene disorder, no test is available and molecular testing is required urgently to guide
management, R14 may be requested.

Commissioning group


Overlapping idications

• R26 Likely common aneuploidy test should be used first where the cause is considered likely to be a common aneuploidy • R28 Congenital malformation and dysmorphism syndromes – microarray should be undertaken in parallel where clinically indicated. Where the cause is highly likely to be chromosomal, for example where the clinical features are characteristic of Williams syndrome, then microarray should be undertaken in advance of the R14 test.

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

Supporting documents


Education resources


Service updates


Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form