Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Cholestasis

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form