Clinical Indication ID & Name
Possible mitochondrial disorder - nuclear genes
Test Group
Mitochondrial
Specialties
Test code
R63.1
Test name
N/A
Target genes
Possible mitochondrial disorder - nuclear genes (539)
Test scope
n/a
Test method/ technology
WES or Large Panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with clinical features suggestive of a mitochondrial disorder requiring examination of nuclear genes where more targeted testing is not possible.
Test code
R63.2
Test name
N/A
Target genes
Possible mitochondrial disorder - nuclear genes (539)
Test scope
n/a
Test method/ technology
WES or Large Panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with clinical features suggestive of a mitochondrial disorder requiring examination of nuclear genes where more targeted testing is not possible.
Commissioning group
Highly Specialised
Overlapping idications
• Examination of the mitochondrial genome using one or more of the following indications should be considered first where possible based on clinical or biochemical/enzyme results: a. R42 Leber hereditary optic neuropathy b. R64 Maternally inherited diabetes and deafness c. R349 MELAS syndrome d. R350 MERRF syndrome e. R351 NARP syndrome or maternally inherited Leigh syndrome f. R317 Mitochondrial liver disease, including transient infantile liver failure g. R299 Possible mitochondrial disorder - mitochondrial DNA rearrangement testing h. R300 Possible mitochondrial disorder - whole mitochondrial genome sequencing i. R301 Possible mitochondrial disorder - mitochondrial DNA depletion testing • Targeted examination of nuclear genes should be considered first where possible based on clinical or biochemical/enzyme results: j. R315 POLG-related disorder k. R352 Mitochondrial DNA maintenance disorder l. R353 Mitochondrial disorder with complex I deficiency m. R354 Mitochondrial disorder with complex II deficiency n. R355 Mitochondrial disorder with complex III deficiency o. R356 Mitochondrial disorder with complex IV deficiency p. R356 Mitochondrial disorder with complex V deficiency q. R316 Pyruvate dehydrogenase (PDH) deficiency
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