Clinical Indication ID & Name
Cerebral malformation
Test Group
Neurology
Specialties
Test code
R87.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Cerebral malformation such as cortical malformation or porencephaly with features suggestive of a monogenic cause
Test code
R87.3
Test name
N/A
Target genes
Cerebral malformations (491)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Cerebral malformation such as cortical malformation or porencephaly with features suggestive of a monogenic cause
Commissioning group
Specialised
Overlapping idications
• R110 Segmental overgrowth disorders – Deep sequencing test should be used where megalencephaly is present to allow detection of mosaic mutations
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