Clinical Indication ID & Name
Possible mitochondrial disorder - mitochondrial DNA rearrangement testing
Test Group
Mitochondrial
Specialties
Test code
R299.1
Test name
N/A
Target genes
Mitochondrial genome
Test scope
n/a
Test method/ technology
Other
Optimal Family Structure
n/a
Eligibility Criteria
Possible mitochondrial disorder caused by mitochondrial DNA rearrangements including individuals with clinical features suggestive of CPEO, Kearns-Sayre syndrome or Pearson syndrome
Affected tissue, such as muscle, preferred
Test code
R299.2
Test name
N/A
Target genes
Mitochondrial genome
Test scope
n/a
Test method/ technology
Other
Optimal Family Structure
n/a
Eligibility Criteria
Possible mitochondrial disorder caused by mitochondrial DNA rearrangements including individuals with clinical features suggestive of CPEO, Kearns-Sayre syndrome or Pearson syndrome
Affected tissue, such as muscle, preferred
Test code
R299.3
Test name
N/A
Target genes
Mitochondrial genome
Test scope
n/a
Test method/ technology
Other
Optimal Family Structure
n/a
Eligibility Criteria
Possible mitochondrial disorder caused by mitochondrial DNA rearrangements including individuals with clinical features suggestive of CPEO, Kearns-Sayre syndrome or Pearson syndrome
Affected tissue, such as muscle, preferred
Commissioning group
Highly Specialised
Overlapping idications
n/a
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