Disorders

ZIC2-Related Holoprosencephaly

Synonym(s): Holoprosencephaly 5, HPE5

Gene	Locus	Protein
ZIC2	13q32	Zinc finger protein ZIC 2

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
GeneDx - Gaithersburg, MD, USA
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Medgene, MedGene - Bratislava, Slovakia
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.