Clinical Indication ID & Name
Congenital malformation and dysmorphism syndromes – microarray only
Test Group
Core
Test code
R28.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of a chromosomal cause, for example individuals with features characteristic of Williams syndrome
Commissioning group
Core
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic test should be used instead where the likelihood of a chromosomal cause is lower • R26 Likely common aneuploidy test should be used where clinical features are strongly suggestive of trisomy 13, 18 or 21, Turner syndrome or other sex chromosome aneuploidy
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