WGS for patients with a rare disease

Rare Disease Whole Genome Sequencing (WGS)

Whole Genome Sequencing (WGS) is now available for certain rare diseases as outlined in the National Genomic Test Directory. This testing should be targeted primarily at situations where a genetic diagnosis will affect the healthcare of a patient or their family members. On this page you will find how to access the WGS request forms to use and an outline of the new ‘patient choice’ model of consent for genomic testing. 

Please see this video for Test Order Form guidance and this PDF for further guidance on how to fill out the WGS forms.

If you are unsure if WGS is the right test for your patient, or if you think your patient may have had WGS already, please contact us by email

Find the answers to common questions about WGS FAQs.


View all rare disease indications eligible for WGS
  • R89 Ultra-rare and atypical monogenic disorders
  • R27 Congenital malformation and dysmorphism syndromes
  • R29 Intellectual disability
  • R69 Hypotonic infant
  • R104 Skeletal dysplasia
  • R100 Rare syndromic craniosynostosis or isolated multisuture synostosis
  • R143 Neonatal diabetes
  • R98 Likely inborn error of metabolism
  • R54 Hereditary ataxia with onset in adulthood
  • R55 Hereditary ataxia with onset in childhood
  • R56 Adult onset dystonia
  • R57 Childhood onset dystonia, chorea or related movement disorder
  • R58 Adult onset neurodegenerative disorder
  • R59 Early onset or syndromic epilepsy
  • R60 Adult onset hereditary spastic paraplegia
  • R61 Childhood onset hereditary spastic paraplegia
  • R62 Adult onset leukodystrophy
  • R78 Hereditary neuropathy or pain disorder
  • R83 Arthrogryposis
  • R381 Other rare neuromuscular disorders
  • R84 Cerebellar anomalies
  • R85 Holoprosencephaly – NOT chromosomal
  • R86 Hydrocephalus
  • R87 Cerebral malformation
  • R88 Severe microcephaly
  • R109 Childhood onset leukodystrophy
  • R193 Cystic renal disease
  • R257 Unexplained paediatric onset end-stage renal disease
  • R135 Paediatric or syndromic cardiomyopathy
  • R15 Primary immunodeficiency
  • R31 Bilateral congenital or childhood onset cateracts
  • R32 Retinal disorders
  • R33 Possible X-linked retinitis pigmentosa
  • R34 Sorsby retinal dystrophy
  • R35 Doyne retinal dystrophy
  • R36 Structural eye disease

In order to find out if a clinical indication is suitable for WGS, go to the link below and the National Genomic Test Directory for rare and inherited disease document. The tab titled ‘WGS MVP0.0 test codes’ lists the eligible clinical indications.

If the indication is not available for WGS, go to the Rare and inherited disease eligibility criteria document and search for the indication (ctrl+F). 

To order a non-WGS test, refer back to the Test Order page and follow the links provided.

Test order forms

Using the NHSE Test Order Form clinicians can request WGS testing for two family members in addition to the proband. These forms can either be completed electronically or printed and completed by hand.  Please note that to complete the forms electronically you will need to save a local copy of the form first.

The completed form will then need to be  sent with the completed Record of Discussion (please see below) and the appropriate samples to the GLH laboratory address on the top of the WGS order form.

Record of discussion

With all WGS tests, a record of discussion (RoD) form is required for results to be released. This form facilitates a ‘patient choice’ model of consent which covers both the clinical implications of a test, as well as the research offer within the clinical pathway. A guide to the forms required to consent your patient to clinical WGS and the National Genomic Research Library (NGRL) can be found in the table below. Genomics England’s video explains the importance of patients being recruited to the NGRL. 

Translated versions of the WGS RoD and patient information sheets can be found here

Individuals aged 16+ years with capacityChildren (less than 16 years)Patient representative/consultee (for adults without capacity)Deceased
Clinical testRoD signed by individual (or by clinician on behalf of the patient)RoD signed by parent/guardian (or by clinician on behalf of the patient)RoD signed by person acting in best interests of patient (or by clinician on behalf of the patient)RoD signed by appropriate relative (or by clinician on behalf of the patient)
National Genomic Research Library (NGRL)Research choice captured within RoD; additional form to note choice about NGRL if not made at time of clinical test discussion (OPT form)
No additional formsOPTIONAL Assent form signed by childMANDATORY Consultee from signed by consulteeNo additional forms

Sample type and requirements

All genomic testing is typically done with an EDTA sample.


Stored DNA may be used if a patient has previously had samples taken for previous genomic tests. For patients who have had a bone marrow transplant, a germline DNA sample would need to be acquired from skin fibroblasts, other unaffected tissue, or from a germline sample stored before the patient’s transplant. 

In exceptional circumstances, where considered clinically appropriate and if no fresh or stored blood or fibroblast derived DNA is available, DNA extracted from saliva samples may be used.

Useful links

Turnaround times

During Live Clinical Testing turnaround times may vary. Once testing is complete we will publish fixed turnaround times. 

South East GLH lab address and opening hours

Within working hours (Mon to Fri 9am-5pm) samples should be sent to:
South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital

Outside of working hours samples should be sent to:
Central Specimen Reception
4th floor Southwark Wing
Guy’s Hospital

Expected Turnaround Times:

The South East GLH continues to meet expected targets for those patients that require urgent testing, however our non-urgent Rare Disease service has been affected by a number of challenges over the last 12 months. 

We have a comprehensive service improvement plan which aims to significantly improve the turnaround times for non-urgent tests.

Our current average reporting times can be found here. We apologise for the delay in returning a result to you for your patient.  Please do contact the laboratory if any of the tests that you are waiting for become urgent and we will expedite testing.  Urgent criteria include:

  • Family pregnancy
  • Clinical intervention dependent on genomic test results
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.