SWGLH Requesting a genomic test for Rare Disease

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.

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

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.

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.

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 DNA WILL BE EXTRACTED FROM SAMPLES AND FORWARDED TO ANOTHER LABORATORY IN THE GLH NETWORK.
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

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.

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.

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’

The GLH network aims to report rare disease genomic test results according to national guidelines:
- Target Turnaround Times Table
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.