Blepharophimosis Ptosis and Epicanthus Inversus Panel

Overview

Test Name

Blepharophimosis Ptosis and Epicanthus Inversus Panel

Test Code

OPE1005

Test Category

Gene Panels

Test Subcategory

Ophthalmology

Disease(s) Targeted

Blepharophimosis ptosis and epicanthus inversus

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of blepharohimosis, ptosis and epicanthus inversus syndrome (BPES).

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis.

No. of Genes

Panel Content

Download Panel Content

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Blepharophimosis ptosis and epicanthus inversus

Blepharophimosis, ptosis, and epicanthus inversus is a genetic condition causing eyelid abnormalities that can affect vision and appearance.