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
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