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

R75

Oculopharyngeal muscular dystrophy

Test Group

Neurology

Test code

R75.1

Test name

N/A

Target genes

PABPN1 STR

Test scope

n/a

Test method/ technology

STR testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly suggestive of oculopharyngeal muscular dystrophy

Commissioning group

Specialised

Overlapping idications

• R89 Ultra-rare and atypical monogenic disorders test should be considered where features are atypical • R381 Other rare neuromuscular disorders should be used where clinical features are atypical and a broader range of genes are potentially causative

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