SWGLH Requesting a genomic test for Rare Disease

The South West Genomic Laboratory Hub (SWGLH) offers a comprehensive range of genomic tests for patients with rare diseases:


  1. A range of technologies are utilised to investigate a genetic diagnosis in a patient with a rare disease, to provide predictive testing for relatives at risk of a genetic disorder, or for carrier testing to inform reproductive choices. These testing methods are specified in the National Genomic Test Directory (NGTD) and include next generation sequencing of gene panels, Sanger sequencing, microarray, MLPA, common aneuploidy testing, karyotype, methylation and STR analysis. Follow the sequential steps to assist your genomic request on the page below.


  1. Whole genome sequencing (WGS) for eligible rare diseases follow the link to the whole genome sequencing pages


  1. Rapid Whole Genome Sequencing Service for acutely unwell children with a likely monogenic disorder (R14), is a national service delivered by the SWGLH at the Exeter Laboratory  Please send these samples to the Exeter Genomics Laboratory.


    Step 1 Check patient eligibility

    Eligibility criteria for the rare diseases can be found in the National Genomic Test Directory (NGTD)

    • The Rare Disease tests are performed at both Bristol and Exeter laboratories dependent on the type of test request, as defined below.

    Rare Disease Laboratory Tests

    Summary table of the Rare Disease Genomic Test Logistics for the South West
    • Core Rare disease tests
    • Specialised rare disease tests: − neurology − cardiac − renal
    • Whole Genome Sequencing tests
    Bristol Genetics Laboratory
    Pathology Sciences
    Southmead Hospital
    Westbury-on-Trym Bristol
    BS10 5NB
    • Specialised rare disease tests: − haematology − ophthalmology − gastroenterology − hearing − immunology − inherited cancer − metabolic − mitochondrial − musculoskeletal − respiratory − skin − non-invasive pre-natal diagnosis

    Bristol Genetics Laboratory
    Pathology Sciences
    Southmead Hospital
    Westbury-on-Trym Bristol
    BS10 5NB


    • HFE related haemochromatosis (R95)
    • Specialist rare disease tests for endocrine disorders
    • Exome sequencing service (R14 and R89)
    Exeter Genomics Laboratory
    RILD level 3
    Royal Devon and Exeter NHS Foundation Trust
    Barrack Road Exeter
    EX2 5DW

    Step 2 Collect the sample(s)

    • Most genomic tests can be performed on peripheral blood samples collected into EDTA tubes.
      • Please send 2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates
      • For cytogenetic analysis, for example karyotyping of Fluorescent in situ hybridisation, a blood sample in Lithium Heparin (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) is required.
      • Blood samples should be kept at room temperature or at 4oC and not be frozen before dispatch.
      • They should be sent to the SWGLH to arrive within 1-3 days of sample collection.
      • Chorionic villus samples or products of conception should be sent in transport media, if you require this please contact the laboratory.
      • Testing for facioscapulohumeral muscular dystrophy (FSHD) requires a larger volume of blood - minimum of 8ml in an EDTA tube is requested.
    • In special circumstances, a saliva sample is acceptable. Please contact the SWGLH for saliva sample collection kit. For other diagnostic material, including extracted DNA (5µg minimum) or paraffin embedded blocks, please contact the SWGLH, details below
    • We recommend that clinicians follow local Trust policy regarding consent for rare disease diagnostic testing.

    Step 3 Complete the request form

    •  All samples for rare disease genomic testing should be accompanied by a fully completed request form
    • The request form should include as much clinical information about the patient or family member, family relationships and the requested test code (R number).
    • The Electronic request form is for use for the majority of Rare Disease clinical indications. It may also be used for phlebotomy and requests for DPYD.


    Step 4 Transportation of sample and request form to the SWGLH

    •  In most cases, samples and request forms will be sent by clinicians to their local Pathology reception before dispatch to one of the SWGLH using the using Pathology intersite transport services 

    • Samples may also be posted by Clinical teams or by local Pathology services by first class or courier

    • Packaging should comply with UN3373 regulations for packaging and transportation of samples:

      • The sample should be wrapped in enough tissue to absorb the entire contents of the tube in the event of a breakage.
      • Seal the tissue with tape and place it into a specimen bag and seal.
      • Samples should then be placed in a sample box or padded envelope with the request form and the package marked ‘Pathological Specimen – Fragile With Care’


    Step 5 What are the turnaround times for the test?

    • The GLH network aims to report rare disease genomic test results according to national guidelines:
    • Clinically urgent tests will be prioritised. Please note the reason for urgent testing on the request form and contact the laboratory by e-mail to notify requests in advance for prenatal diagnosis.

    SWGLH Rare Disease Team Contact Bristol Lab Team

    Phone Desktop

    Tel:0117 4146168

    Email: SWGLHenquiries@nbt.nhs.uk


    SWGLH Rare Disease Team Contact Exeter Lab Team

    Phone Desktop

    Tel: 01392 408229

    mailto: rde-tr.moleculargeneticsadmin@nhs.net

    Page last updated 31st October 2023.