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

R89

Ultra-rare and atypical monogenic disorders

Test Group

Core

Specialties

Test code

R89.3

Test name

N/A

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 be used).

• R89 should not be used if appropriate testing is available via another single 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. R27 Paediatric disorders).

• 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.

Requests that include any panel for inherited cancers must be taken to the UKCGG/CanGene-CanVar National Multidisciplinary team meeting and receive delegate approval to proceed.

Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.

Test code

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

gst-tr.southeastglh@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/

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.