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
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