Clinical Indication ID & Name
Congenital malformation and dysmorphism syndromes - microarray and sequencing
Test Group
Core
Specialties
Test code
R27.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Congenital malformations and/or dysmorphism suggestive of an underlying monogenic disorder where targeted genetic testing is not possible.
Testing of individuals with syndromic overgrowth or overgrowth in combination with intellectual disability or developmental delay would also be appropriate under this indication
Test code
R27.3
Test name
N/A
Target genes
Paediatric disorders (486)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Congenital malformations and/or dysmorphism suggestive of an underlying monogenic disorder where targeted genetic testing is not possible.
Testing of individuals with syndromic overgrowth or overgrowth in combination with intellectual disability or developmental delay would also be appropriate under this indication
Commissioning group
Core
Overlapping idications
• R14 Acutely unwell infants with a likely monogenic disorder test should be used instead where relevant where a rapid result is required
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