KIF21A 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 CFEOM1/KIF21A gene causes congenital fibrosis of the extraocular muscles (CFEOM). Exons 2, 8, 20, and 21 of KIF21A contain all pathogenic mutations identified to date. The clinical sensitivity of this test has not been determined, but KIF21A mutations are responsible for most familial and simplex cases of congenital fibrosis of the extraocular muscles. This laboratory performs Sanger sequencing of select exons within KIF21A.



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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