Clinical Indication ID & Name
Cholestasis
Test Group
Gastrohepatology
Test code
R171.1
Test name
N/A
Target genes
Cholestasis (544)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Neonatal conjugated hyperbilirubinaemia where multifactorial and infective causes have been excluded, OR
Unexplained cholestasis developing below the age of 18 (It may occasionally be appropriate to test individuals presenting over the 18 under this indication following expert review) OR
Persistence of unexplained cholestasis beyond 3 months or recurrence of otherwise unexplained cholestasis, including those with a suspected precipitating drug OR
Cholestasis of pregnancy onset in the second trimester or serum bile acids >42umol/mL in the third trimester
Testing may occasionally be appropriate outside these criteria following discussion at the national gastrohepatology genomics MDT.
Test code
R171.2
Test name
N/A
Target genes
Cholestasis (544)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Neonatal conjugated hyperbilirubinaemia where multifactorial and infective causes have been excluded, OR
Unexplained cholestasis developing below the age of 18 (It may occasionally be appropriate to test individuals presenting over the 18 under this indication following expert review) OR
Persistence of unexplained cholestasis beyond 3 months or recurrence of otherwise unexplained cholestasis, including those with a suspected precipitating drug OR
Cholestasis of pregnancy onset in the second trimester or serum bile acids >42umol/mL in the third trimester
Testing may occasionally be appropriate outside these criteria following discussion at the national gastrohepatology genomics MDT.
Commissioning group
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
n/a
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