Clinical Indication ID & Name
Isovaleric acidaemia
Test Group
Screening
Test code
R279.1
Test name
N/A
Target genes
IVD common pseudodeficiency variant
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Likely isovaleric acidaemia identified following neonatal screening or diagnostic metabolic testing
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family. In the case of isovaleric acidaemia, this means that testing is almost exclusively used at those in whom biochemical results indicate a likely pseudodeficiency allele is present.
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