Clinical Indication ID & Name
Severe microcephaly
Test Group
Neurology
Specialties
Test code
R88.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with severe microcephaly* of likely monogenic aetiology
*Severe microcephaly is defined as having an occipitofrontal circumference (OFC) beyond 3 standard deviations below the mean for age
Test code
R88.3
Test name
N/A
Target genes
Severe microcephaly (162)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with severe microcephaly* of likely monogenic aetiology
*Severe microcephaly is defined as having an occipitofrontal circumference (OFC) beyond 3 standard deviations below the mean for age
Commissioning group
Specialised
Overlapping idications
n/a
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