Disorders

Periventricular Heterotopia, Autosomal Recessive

Synonym(s): ARPHM, Periventricular Heterotopia with Microcephaly, Autosomal Recessive, Periventricular Nodular Heterotopia 2, PVNH2

OMIM

Gene	Locus	Protein
ARFGEF2	20q13.13	Brefeldin A-inhibited guanine nucleotide-exchange protein 2

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany	• Sequence analysis of the entire coding region
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* 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.