Disorders

Syndromic Microphthalmia 5

Synonym(s): MCOPS5

Gene	Locus	Protein
OTX2	14q22.3	Homeobox protein OTX2

Laboratory	Test Method	Prenatal	Carrier *
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
GeneDx - Gaithersburg, MD, USA
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA

^* 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.