Clinical Indication ID & Name
R395
Thiamine metabolism dysfunction syndrome 2
Test Group
Mitochondrial
Specialties
Test code
R395.1
Test name
N/A
Target genes
SLC19A3
Test scope
n/a
Test method/ technology
Single gene sequencing <10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features and characteristic brain MRI changes suggestive of thiamine metabolism dysfunction syndrome 2 (also known as Biotin-responsive basal ganglia disease / thiamine responsive encephalopathy)
Commissioning group
Highly 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