Clinical Indication ID & Name
R283
Phenylketonuria
Test Group
Metabolic
Specialties
Test code
R283.1
Test name
N/A
Target genes
PAH
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Likely phenylketonuria identified following diagnostic metabolic testing OR
2. Testing patients diagnosed with PKU to indicate sapropterin responsiveness
Test code
R283.2
Test name
N/A
Target genes
PAH
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Likely phenylketonuria identified following diagnostic metabolic testing OR
2. Testing patients diagnosed with PKU to indicate sapropterin responsiveness
Commissioning group
Specialised
Overlapping idications
n/a
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
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form