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

R43

Blepharophimosis ptosis and epicanthus inversus

Test Group

Ophthalmology

Specialties

Clinical Genetics Ophthalmology

Test code

R43.1

Test name

N/A

Target genes

FOXL2

Test scope

n/a

Test method/ technology

Single gene sequencing <10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features indicative of a likely clinical diagnosis of blepharohimosis, ptosis and epicanthus inversus syndrome (BPES) including the presence of all of the following: blepharophimosis, ptosis, epicanthus inversus AND telecanthus

Test code

R43.2

Test name

N/A

Target genes

FOXL2

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features indicative of a likely clinical diagnosis of blepharohimosis, ptosis and epicanthus inversus syndrome (BPES) including the presence of all of the following: blepharophimosis, ptosis, epicanthus inversus AND telecanthus

Test code

R43.3

Test name

N/A

Target genes

FOXL2 STR

Test scope

n/a

Test method/ technology

STR testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features indicative of a likely clinical diagnosis of blepharohimosis, ptosis and epicanthus inversus syndrome (BPES) including the presence of all of the following: blepharophimosis, ptosis, epicanthus inversus AND telecanthus

Commissioning group

Specialised

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/

Request form download

Rare Disease Order Form Record of Discussion Form

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