Clinical Indication ID & Name
R301
Possible mitochondrial disorder - mitochondrial DNA depletion testing
Test Group
Mitochondrial
Specialties
Test code
R301.1
Test name
N/A
Target genes
Mitochondrial genome
Test scope
n/a
Test method/ technology
Other
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of a mitochondrial DNA depletion syndrome
Muscle or liver tissue required
Commissioning group
Highly Specialised
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