Clinical Indication ID & Name
Angelman syndrome
Test Group
Core
Test code
R47.1
Test name
N/A
Target genes
AS/PWS critical region
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
1. Molecular findings suggestive of Angelman syndrome from, for example microarray, exome or genome analysis such as likely isodisomy or deletion at 15q11-13; OR
2. Clinical features strongly suggestive of Angelman syndrome
Test code
R47.2
Test name
N/A
Target genes
AS/PWS critical region
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Molecular findings suggestive of Angelman syndrome from, for example microarray, exome or genome analysis such as likely isodisomy or deletion at 15q11-13; OR
2. Clinical features strongly suggestive of Angelman syndrome
Commissioning group
Core
Overlapping idications
• R29 Intellectual disability – microarray, fragile X and sequencing or other relevant broader tests should be used in preference individuals where Angelman syndrome is plausible but not highly likely • R263 Confirmation of uniparental disomy test should be used to confirm likely UPD detected on methylation and copy number testing
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form