Disorders

KIF21A-Related Congenital Fibrosis of the Extraocular Muscles

Gene	Locus	Protein
KIF21A	12q12

Laboratory	Test Method	Prenatal	Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA	• Sequence analysis of select exons
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany	• Sequence analysis of select exons
Centogene AG, Rare Disease Company - Rostock, Germany
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• Sequence analysis of select exons

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.