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

R331

Intestinal failure or congenital diarrhoea

Test Group

Gastrohepatology

Specialties

Clinical Genetics Gastroenterology Neonatology Paediatrics

Test code

R331.1

Test name

N/A

Target genes

Intestinal failure or congenital diarrhoea (514)

Test scope

n/a

Test method/ technology

WES or Small Panel

Optimal Family Structure

n/a

Eligibility Criteria

• Intestinal failure occurring under the age of 18, with dependence on parenteral nutrition over a period of months, with no identifiable underlying cause. OR
• Infants presenting with severe and persistent diarrhoea that arises in the neonatal period (first 28 days of life). Severity is defined as requirement for critical care input or parenteral nutrition at any point and persistence for at least 14 days. The disease must be unrelated to surgical short bowel OR
• Congenital Short Bowel Syndrome (approx. 50cm in length compared to ~250cm)

Test code

R331.2

Test name

N/A

Target genes

Intestinal failure or congenital diarrhoea (514)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

• Intestinal failure occurring under the age of 18, with dependence on parenteral nutrition over a period of months, with no identifiable underlying cause. OR
• Infants presenting with severe and persistent diarrhoea that arises in the neonatal period (first 28 days of life). Severity is defined as requirement for critical care input or parenteral nutrition at any point and persistence for at least 14 days. The disease must be unrelated to surgical short bowel OR
• Congenital Short Bowel Syndrome (approx. 50cm in length compared to ~250cm)

Commissioning group

Specialised

Overlapping idications

• R15 Primary immunodeficiency test should be used where the presentation is indicative of infantile inflammatory bowel disease

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