Disorders

OTX2-Related Combined Pituitary Hormone Deficiency

Synonym(s): Combined Pituitary Hormone Deficiency 6, CPHD6

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
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany

^* 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.