Disorders

DOK7-Related Fetal Akinesia Deformation Sequence

Synonym(s): Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia, Pena-Shokeir Syndrome, Type I

Gene	Locus	Protein
DOK7	4p16.2	Protein Dok-7

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Cologne University, Institute of Human Genetics - Cologne, Germany	• Linkage analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
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.