Congenital Fibrosis of the extraocular muscles Panel

Overview

Test Name
Congenital Fibrosis of the extraocular muscles Panel
Test Code
OPE1006
Test Category
Gene Panels
Test Subcategory
Ophthalmology
Disease(s) Targeted
Congenital fibrosis of the extraocular muscles
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of congenital fibrosis of the extraocular muscles.
Test Approach

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

No. of Genes
5
Panel Content
Deliverables
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 Congenital fibrosis of the extraocular muscles

Congenital fibrosis of the extraocular muscles is a rare genetic disorder causing limited eye movement and drooping eyelids from birth.

Gene Panel Workflow

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