Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Prader-Willi syndrome

Clinical Indication ID & Name

R48

Prader-Willi syndrome

Test Group

Core

Specialties

Clinical Genetics Genomics Laboratory Neonatology Paediatrics Neurology Endocrinology

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form