Clinical Indication ID & Name
R275
Glutaric acidaemia I
Test Group
Screening
Test code
R275.1
Test name
N/A
Target genes
GCDH
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Likely glutaric acidaemia type 1 identified following neonatal screening or diagnostic metabolic testing
Commissioning group
Newborn Screening
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
n/a
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