Clinical Indication ID & Name
Ultra-rare and atypical monogenic disorders
Test Group
Core
Specialties
Test code
R89.3
Test name
Ultra-rare and atypical monogenic disorders
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
This clinical indication should be used for patients with ultra-rare disorders or atypical manifestations of recognised monogenic disorders that make broad analysis of multiple gene panels that potentially cross different clinical indications the optimal approach. (e.g. for patients where two or more potential genetic disorders are suspected and the patient is eligible for more than one non-WGS test, WGS via R89 could beused).
• R89 should not be used if appropriate testing is available via another test in the test directory
(e.g. if testing for monogenic hearing loss only is required this should be requested by the test available for R67).
• If the patient meets the eligibility criteria for another WGS clinical indication then that
indication should be requested as the primary reason for referral but additional panels can be
requested, as appropriate, (e.g. R29 intellectual disability).
• Gene panels must be selected for clinical indication R89. These should be entered into the
‘Additional panel(s)’ box on the WGS test order form.
It is not a requirement to perform microarray testing in addition to WGS but microarray testing can be performed where appropriate
Test code
R89.3
Test name
N/A
Target genes
Relevant panel(s) in PanelApp
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
[If you are looking for R89.2, this test is no longer commissioned by NHS England. This means it is not available to order.]
Commissioning group
Core
Overlapping idications
n/a
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.