Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Ultra-rare and atypical monogenic disorders

Clinical Indication ID & Name

R89

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form