Clinical Indication ID & Name
Intestinal failure or congenital diarrhoea
Test Group
Gastrohepatology
Specialties
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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.