Rare and Inherited disorders
Rare Disease testing
The Synnovis Genetics laboratory at Guy’s Hospital is the hub laboratory of the SE GLH.
For accredited tests refer to the UKAS website here UKAS: Search Accredited Organisations – UKAS number 8688. The Genetics Centre provides a service to the former South East Thames NHS region, with an estimated population of 3.8 million. It is a member of the South East England Genetics Network (SEEGen) which is a consortium comprising laboratories and genetic clinics within South East England serving a total population of 14.2 million.
In addition, the laboratories receive a large number of national and international referrals for an increasing number of highly specialised genetic tests.
As well as providing a comprehensive diagnostic service, the Synnovis Genetics Laboratory has an active research and development programme with close affiliation to the GSTT Biomedical Research Centre.
SE GLH: Non-WGS Genetic test request form
It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing.
Please note that any errors made when completing the form may result in delays in processing.
Results will be returned by email to the referring clinician at the email address provided on the request form. Please provide an nhs.net account and also include a departmental account if available.
For Whole Genome Sequencing (WGS) a separate WGS Test Order Form and Record of Discussion form is required. Please visit the RD WGS page to view these and check patient eligibility.
Other request forms
Genetic testing for Congenital Muscular Dystrophy (R79) and Congenital Myopathy (R81) is available via the National Genomic Test directory. However it is part of a highly specialised service (HSS), led by the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital, that offers genetic and pathology diagnosis and clinical advice. Detailed clinical information is essential to help with genetic analysis and variant interpretation as well as to offer clinical advice once genetic testing is complete. Therefore the clinical information form linked below must be completed for every patient referred for genetic testing to the SE GLH.
Tests offered
The full list of tests offered can be found in the National Test Directory. This specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test.
Inherited cancers are classified as a rare disease in the National Test Directory, please use the Non-WGS Genetic Test request form when ordering an inherited cancer test.
Please follow the below links for more information on these tests:
SE GLH: Record of Discussion form
The Record of Discussion form can be downloaded and used to guide and record the patient’s consent. This should be saved in local patient records and does not need to be sent with the request form.
Sample type and requirements
For information on the samples required for specific tests, please view the SE GLH Test Index & Sample Requirements (last updated Jan 2021). For any tests not listed in the index please send 1-3ml EDTA blood.
Turnaround times
GLHs aim to report all results according to NHSE indicated turnaround times, however, the impact of Covid and the ongoing genomics transformation programmes are resulting in extended reporting times. Current average reporting times for some of the most frequently requested core rare disease genomics tests are provided below to enable clinicians to advise patients accordingly.
Please note that average reporting times are derived from calculation of the time at which all samples and clinical information have been received at the laboratory and the date the diagnostic report is available to the referring clinician.
Rare Disease Genomics Diagnostic Tests | November 2023 Average Reporting Time |
---|---|
Rapid Aneuploidy Screening | 2 days |
Prenatal/Neonatal microarray | 14 days |
Analysis of fetal tissue/products of conception | 4-5 weeks |
Postnatal Microarray | 5-6 months |
Cystic Fibrosis screen | 2-3 weeks |
Postnatal karyotype | 4-5weeks |
Inherited Breast/Ovarian cancer screen | 6-7 weeks |
Familial hypercholesterolemia screen | 3-4 months |
Y microdeletion screen | 3-4 weeks |
Fragile X screen | 2-3 weeks |
Neurology gene panel screen | 2-3 months |
Postanatal chromosome breakage test | 2 weeks |
Dematology gene panel screen | 12 months |
Whole genome sequencing panel | 12 months |
Urgent Inherited Breast/Ovarian cancer screen | 2-3 weeks |
Prenatal/Neonatal karyotype | 2-3 weeks |
Prader Will/Angelmans Syndrome Test | 3-4 weeks |
Aminoglycoside exposure posing risk to hearing | 5-6 weeks |
Rare Disease Genomics Predictive Tests | November 2023 Average Reporting Time |
---|---|
Aminoglycoside exposure posing risk to hearing loss | 4-5 weeks |
APC Associated Polyposis R414 | 2 weeks |
Congenital Myopathy R81 | 2 weeks |
Huntington disease R68 | 2 weeks |
Inherited Breast and Ovarian Cancer R208 | 2-3 weeks |
Inherited polyposis R211 | 2-3 weeks |
Lynch Syndrome R210 | 2-3 weeks |
Lab address and opening hours
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Mon-Fri 9:00-17:00
Tel: 020 7188 2582/1696
Enquiries about tests or results can be emailed to gst-tr.viapathgeneticsadmin@nhs.net.
More details and key contacts can be found on the Synnovis Genetics Department webpage.
For clinical enquiries
Clinical enquiries should be referred to the local Clinical Genetics Service – Genetic Counsellor or Consultant on duty.
For complaints
For complaints, please visit the Synnovis complaints page for the policy and procedure.