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WGS testing for eligible rare diseases

SWGLH WGS RD eligibilty

Is the patient eligible for WGS testing?


Here is a summary of the eligible rare disease from the National Genomic Test Directory with test reference in brackets:

  • Congenital malformation and dysmorphism syndromes (R27)
  • Intellectual disability (R29)
  • Hereditary ataxia with onset in adulthood (R54)
  • Early onset or syndromic epilepsy (R59)
  • Childhood onset hereditary spastic paraplegia (R61)
  • Hypotonic infant with a likely central cause (R69)
  • Arthrogryposis (R83)
  • Cerebellar anomalies (R84)
  • Holoprosencephaly (not chromosomal) (R85)
  • Hydrocephalus (R86)
  • Cerebral malformation (R87)
  • Severe microcephaly (R88)
  • Ultra-rare and atypical monogenic disorders (R89)
  • Likely inborn error of metabolism- targeted testing not possible (R98)
  • Rare syndromic craniosynostosis or isolated multisuture synostosis (R100)
  • Skeletal dysplasia (R104)
  • Childhood onset leukodystrophy (R109)
  • Neonatal diabetes (R143)
  • Cystic renal disease (R193)
  • Other rare neuromuscular disorders (R381)

If you have any queries at this point please contact the appropriate laboratory team - information in boxes above

 

Your patient is eligible - now follow this simple checklist to process your request for WGS:
 

WGS request order form for patient:

GMS Test Order Form - Rare Disease Proband v1.16.pdf231 KB

and request order form for each family member:

GMS Test Order Form - Rare Disease Family Member v1.15.pdf227.23 KB

 Complete the form and email to nbn-tr.geneticsexportscientists@nhs.net

 

  Patient information leaflets:

 

   

 

- complete this standardised record of discussion form to record the patient choice process in which the patient is enabled to make an     informed decision regarding the diagnostic clinical test, distinct from the decision to particpate in the research offer

Variations of the record of discussion form (research offer, young persons assent, wihdrawal and Consultee declaration) can be found in the block to the right 

 

 Arrange for phlebotomy for blood samples using either the Bristol or Exeter Sample Form

Exeter MG_Diagnostic-Request-Form-DEC-2016 (4).doc76 KB

 

 

Send the sample to the laboratory by the approved [routes]

 

The results will be returned to the email address completed on the request order form

 

The turn around time is (add)

 

 You wish to download this page checklist as a prompt and there is a handy Genomics Education Programme  developed about patient choice and requesting WGS 

 

 

Need more information?

  • WGS for Eligible rare diseases Clinical Guide a companion document detailing the processes outlined on these pages
  • Have a look at the SWGLH education page for further training and education resources to support the clinician with patient choice conversations

Related Information

Contact the Bristol Lab Rare Disease Team

For WGS enquiries relating to renal & neurology 

T: 0117 4146168   E: nbn-tr.geneticsenquiries@nhs.net

 

 

 

Contact the Exeter Lab Rare Disease Team

For enquiries relating to WGS vs. WES & endocrinology & neonatal diabetes service

T: 01392 408229     E: rde-tr.moleculargeneticsadmin@nhs.net

WGS Record Of Discussion forms - additional

information icon

There are a number of related variations of the record of discussion forms to support the context of the patient's situation

– to record or update an individual’s choice about the NGRL if this was not made at the time when the clinical test was discussed.

 – mandatory to be completed by a consultee making a decision about the NGRL for an adult without capacity

 – may be completed by a young person when their parent or guardian is making choices on their behalf.

 – to be completed by individuals wishing to withdraw their participation in the NGRL

 

WGS testing for eligible rare diseases