Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R171

Cholestasis

Test Group

Gastrohepatology

Specialties

Clinical Genetics Hepatology Metabolic Medicine Neonatology Paediatrics

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

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

kch-tr.pnd@nhs.net

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

Gastrohepatology Order Form Record of Discussion Form

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