Clinical Indication ID & Name
Prader-Willi syndrome
Test Group
Core
Test code
R48.1
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 Prader-Willi 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 Prader-Willi syndrome
Test code
R48.2
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 Prader-Willi 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 Prader-Willi 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 Prader-Willi 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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.