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
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
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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old