Clinical Indication ID & Name
Polycystic liver disease
Test Group
Gastrohepatology
Specialties
Test code
R173.1
Test name
N/A
Target genes
Polycystic liver disease interim (653)
Test scope
n/a
Test method/ technology
WES or Small Panel
Optimal Family Structure
n/a
Eligibility Criteria
Patients with multiple hepatic cysts with no explanation
Test code
R173.2
Test name
N/A
Target genes
Polycystic liver disease interim (653)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Patients with multiple hepatic cysts with no explanation
Commissioning group
Specialised
Overlapping idications
• R193 Cystic renal disease test should be used where patients have both renal and hepatic cysts • R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
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