Clinical Indication ID & Name
Pyruvate dehydrogenase (PDH) deficiency
Test Group
Mitochondrial
Specialties
Test code
R316.1
Test name
N/A
Target genes
Pyruvate dehydrogenase (PDH) deficiency (531)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features and laboratory features strongly suggestive of pyruvate dehydrogenase deficiency
Test code
R316.2
Test name
N/A
Target genes
Pyruvate dehydrogenase (PDH) deficiency (531)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features and laboratory features strongly suggestive of pyruvate dehydrogenase deficiency
Commissioning group
Highly Specialised
Overlapping idications
• R63 Possible mitochondrial disorder - nuclear genes test should be considered where a broader range of mitochondrial nuclear genes are potentially causative
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