Clinical Indication ID & Name
Acutely unwell children with a likely monogenic disorder
Test Group
Core
Specialties
Test code
R14.1
Test name
Acutely unwell children with a likely monogenic disorder
Target genes
Trio gene agnostic or appropriate panels in singletons or duos
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Acutely unwell children with a likely monogenic disorder
Where clinical features and/or non genetic investigations are pathognomonic of a single
gene disorder, no test is available and molecular testing is required urgently to guide
management, R14 may be requested.
Note: Please note that myotonic dystrophy, spinal muscular atrophy (SMA) and Prader Willi syndrome caused by imprinting defects will not be detected by R14 and testing must be requested separately where appropriate
1. The R14 request must be discussed with the Clinical Genetics service and this must be communicated to the SE GLH hub lab
2. Testing is only performed on trio cases, so parents samples are required.
3. The completed R14 test order form must be sent by the referring clinician to the Exeter lab to request approval to perform the test and if granted this needs to be communicated to the SE GLH hub lab who will then send the samples.
This is the link to the R14 Rapid Genome Sequencing Service to access the R14 Test Request Form:
https://www.exeterlaboratory.com/genetics/genome-sequencing/
And this is a diagram of the indicated referral pathway:
https://www.exeterlaboratory.com/wp-content/uploads/R14_wesbite-_image1.png
Commissioning group
Core
Overlapping idications
• R26 Likely common aneuploidy test should be used first where the cause is considered likely to be a common aneuploidy • R28 Congenital malformation and dysmorphism syndromes – microarray should be undertaken in parallel where clinically indicated. Where the cause is highly likely to be chromosomal, for example where the clinical features are characteristic of Williams syndrome, then microarray should be undertaken in advance of the R14 test.
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
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
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: 1. Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (1-7µg 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). 2. Bone marrow sample in EDTA tube, cell count must be provided. 3. Cultured Fibroblasts in medium 4. Fresh tissue with at least 30% tumour cell content: Adequate sample sizes include 5mm x 5mm x 2mm tissue or 15mm x 2mm needle core biopsy. Multiple biopsies recommended if clinically feasible. Tissue should be embedded in OCT or preserved in RNA Later where appropriate 5. Extracted DNA , 1 μg to 7.2 μg depending on WGS pathway. Storage, sample packing and transportation: Blood and bone marrow samples should be stored at 4°C whenever possible and sent at room temperature via first-class post or courier. Tissue samples preserved in RNA Later can be shipped at room temperature, while fresh tissue samples must be shipped on ice/dry ice. All samples should arrive at the laboratory within 24 hours of collection. 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.