Disorders

Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction

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	• Sequence analysis of the entire coding region

^* 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.