Clinical Indication ID & Name
R317
Mitochondrial liver disease, including transient infantile liver failure
Test Group
Mitochondrial
Specialties
Test code
R317.1
Test name
N/A
Target genes
Mitochondrial liver disease (532)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Infants (aged <2 years) with acute liver failure of unknown aetiology, or individuals with liver dysfunction suspected to be related to mitochondrial dysfunction
Test code
R317.2
Test name
N/A
Target genes
Mitochondrial liver disease (532)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Infants (aged <2 years) with acute liver failure of unknown aetiology, or individuals with liver dysfunction suspected to be related to mitochondrial dysfunction
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