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

R29

Intellectual disability – microarray and sequencing

Test Group

Core

Test code

R29.2

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Microarray

Optimal Family Structure

n/a

Eligibility Criteria

Unexplained intellectual disability or global developmental delay where clinical features are suggestive of an underlying monogenic disorder requiring sequencing and targeted genetic testing is not possible. Microarray can be deselected if not relevant, for example if they have already been performed

Test code

R29.4

Test name

N/A

Target genes

Intellectual disability (285)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Unexplained intellectual disability or global developmental delay where clinical features are suggestive of an underlying monogenic disorder requiring sequencing and targeted genetic testing is not possible. Microarray can be deselected if not relevant, for example if they have already been performed

Commissioning group

Core

Overlapping idications

•R53 Fragile X – if clinical features are suggestive of Fragile X syndrome then this test should also be requested.

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