Clinical Indication ID & Name
Intellectual disability – microarray only
Test Group
Core
Specialties
Test code
R377.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained autism or intellectual disability with clinical features not consistent with fragile X syndrome or where fragile X testing has previously been performed
Typical fragile X syndrome manifestations in females: learning difficulty (usually mild, IQ often 80-85, but can be moderate or severe LD)
Typical fragile X syndrome manifestations in males: moderate to severe developmental delay / learning difficulty (IQ if measured would be 35-70)
Commissioning group
Core
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
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