Clinical Indication ID & Name
Likely inborn error of metabolism
Test Group
Metabolic
Specialties
Test code
R98.1
Test name
N/A
Target genes
WGS
Test scope
n/a
Test method/ technology
n/a
Optimal Family Structure
n/a
Eligibility Criteria
Clinical feature of a likely inborn error of metabolism where targeted testing is not possible
Commissioning group
Specialised
Overlapping idications
• Targeted tests for specific metabolic disorders should be used where clinical features or biochemical/enzyme testing results are rapidly available and strongly suggestive of the relevant disorder(s)
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