Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Thiamine metabolism dysfunction syndrome 2

Clinical Indication ID & Name


Thiamine metabolism dysfunction syndrome 2

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology

Single gene sequencing <10 amplicons

Optimal Family Structure


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


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


Education resources


Service updates


Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form