PHOX2A Sequencing

Test Background

Congenital fibrosis of extraocular muscles (CFEOM) is a strabismus syndrome characterized by congenital inability to move the eye muscles, with or without ptosis (droopy eyelids). It is inherited in an autosomal dominant manner. The PHOX2A gene causes congenital fibrosis of the extraocular muscles 2 (CFEOM2), which differs from CFEOM1 because defects are in the superior and inferior divisions of the oculomotor nerve rather than just in the superior division as in CFEOM1. This condition is inherited in an autosomal recessive manner. This laboratory performs Sanger sequencing of PHOX2A.



About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

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