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.

Download the HSS National Service referral form.

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 TestsApril 2024 Average Reporting Time
Rapid Aneuploidy Screening2 days
Prenatal/Neonatal microarray14 days
Analysis of fetal tissue/products of conception3-4 weeks
Postnatal Microarray5-6 weeks
Cystic Fibrosis screen2-3 weeks
Postnatal karyotype6-7 weeks
Inherited Breast/Ovarian cancer screen5-6 weeks
Familial hypercholesterolemia screen6-7 weeks
Y microdeletion screen3-4 weeks
Fragile X screen4-5 weeks
Neurology gene panel screen2-3 months
Postanatal chromosome breakage test2 weeks
Dematology gene panel screen5-6 months
Whole genome sequencing panel11-12 months
Urgent Inherited Breast/Ovarian cancer screen2-3 weeks
Prenatal/Neonatal karyotype2-3 weeks
Prader Will/Angelmans Syndrome Test4-5 weeks
Aminoglycoside exposure posing risk to hearing5-6 weeks
Rare Disease Genomics Predictive TestsApril 2024 Average Reporting Time
Aminoglycoside exposure posing risk to hearing loss5-6 weeks
APC Associated Polyposis R4142 weeks
Congenital Myopathy R812-3 weeks
Huntington disease R681-2 weeks
Inherited Breast and Ovarian Cancer R2082-3 weeks
Inherited polyposis R2111-2 weeks
Lynch Syndrome R210 2-3 weeks
Myotonic Dystrophy type 1 R722-3 weeks
C9orf72 R56.2 / R58.31-2 weeks
Myotonic Dystrophy type 2 R4101 week
Hereditary neuropathy – PMP22 copy number R772-3 weeks
Paroxysmal central nervous system disorders R662-3 weeks

Lab address and opening hours

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital

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.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.