Clinical Indication ID & Name
Blepharophimosis ptosis and epicanthus inversus
Test Group
Ophthalmology
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form