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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

R438

Paediatric pseudo-obstruction syndrome

Test Group

Specialised

Specialties

Clinical Genetics

Test code

R438.1

Test name

Paediatric pseudo-obstruction syndrome WES or medium panel

Target genes

Test scope

Small variants, CNVs

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
The diagnosis of PPOS is confirmed on the presence of at least 2 of the following criteria:
1) Manometric evidence of small intestinal neuromuscular involvement
2) radiological evidence of recurrent and/or persistently dilated loops of small intestine with air fluid levels
3) presence of the genetic, metabolic or other conditions associated with PPOS
4) inability to maintain adequate nutrition and/or growth on oral feeding alone

Where in Pathway
At presentation or following assessment by the highly specialised service.
This test should be used where testing for Hirschsprung disease is required.

Commissioning group

n/a

Overlapping idications

Overlapping indications Patients with intestinal failure should be tested using R331 Intestinal failure or congenital diarrhoea

Address for samples/request forms

SYNNOVIS LIVER MOLECULAR GENETICS SERVICE
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.kchlmgadmin@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

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.