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
LIVER MOLECULAR GENETICS (LMG) SERVICE
Liver Labs, Institute of Liver Studies,
3rd Floor Cheyne Wing,
King’s College Hospital NHS Foundation Trust,
Denmark Hill,
London,
SE5 9RS
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