Clinical Indication ID & Name
Acutely unwell children with a likely monogenic disorder
Test Group
Core
Specialties
Test code
R14.1
Test name
N/A
Target genes
Trio gene agnostic or appropriate panels in singletons or duos
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
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
Core
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
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form