Clinical Indication ID & Name
Ultra-rare and atypical monogenic disorders
Test Group
Core
Specialties
Test code
R89.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
• This clinical indication should be used for patients with ultra-rare disorders or atypical manifestations of recognised monogenic disorders that make broad analysis of multiple gene panels that potentially cross different clinical indications the optimal approach. (e.g. for patients where two or more potential genetic disorders are suspected and the patient is eligible for more than one non-WGS test, WGS via R89 could beused).
• R89 should not be used if appropriate testing is available via another test in the test directory
(e.g. if testing for monogenic hearing loss only is required this should be requested by the test available for R67).
• If the patient meets the eligibility criteria for another WGS clinical indication then that
indication should be requested as the primary reason for referral but additional panels can be
requested, as appropriate, (e.g. R29 intellectual disability).
• Gene panels must be selected for clinical indication R89. These should be entered into the
‘Additional panel(s)’ box on the WGS test order form.
Test code
R89.3
Test name
N/A
Target genes
Relevant panel(s) in PanelApp
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
n/a
Commissioning group
Core
Overlapping idications
n/a
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form