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.

Intestinal failure or congenital diarrhoea

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

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