Order or find a test

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

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old