1. Home
  2. WGS testing for eligible rare diseases

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:
 

 PDF icon WGS request order form for patient and request order form for each PDF icon family member.  Complete the form and email to nbn-tr.geneticsexportscientists@nhs.net

  Patient information leaflets:

PDF icon Patient Information for Rare Disease v2.1.pdf and  PDF icon Patient Information for Rare Disease - Easy Read v2.0.pdf

PDF icon Patient Information Research v1.0.pdf

   PDF icon 20200204_ROD_V4.0.0.pdf - 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 PDF icon Bristol or Microsoft Office document icon Exeter sample form

 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 PDF icon checklist 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