Clinical Indication ID & Name
Intellectual disability – microarray and sequencing
Test Group
Core
Specialties
Test code
R29.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained intellectual disability or global developmental delay where clinical features are suggestive of an underlying monogenic disorder requiring sequencing and targeted genetic testing is not possible. Microarray can be deselected if not relevant, for example if they have already been performed
Test code
R29.4
Test name
N/A
Target genes
Intellectual disability (285)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained intellectual disability or global developmental delay where clinical features are suggestive of an underlying monogenic disorder requiring sequencing and targeted genetic testing is not possible. Microarray can be deselected if not relevant, for example if they have already been performed
Commissioning group
Core
Overlapping idications
•R53 Fragile X – if clinical features are suggestive of Fragile X syndrome then this test should also be requested.
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