Disorders

SIX3-Related Holoprosencephaly

Synonym(s): Holoprosencephaly 2, HPE2

Gene	Locus	Protein
SIX3	2p21	Homeobox protein SIX3

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
diagenos - Osnabrueck, 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
University Clinic Freiburg, Institute for Human Genetics - Freiburg, 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.