Clinical Indication ID & Name
Fragile X
Test Group
Core
Specialties
Test code
R53.1
Test name
N/A
Target genes
FMR1 STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features characteristic of fragile X syndrome or other FMR1-related disorder
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
• R29 Intellectual disability – microarray, and sequencing • R54 Hereditary ataxia with onset in adulthood test should be used in preference in individuals with adult onset ataxia given the broad range of possible causes • R402 Premature ovarian insufficiency test should be used where this is the relevant clinical context
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