Disorders

RAPSN-Related Fetal Akinesia Deformation Sequence

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

Gene	Locus	Protein
RAPSN	11p11.2	43 kDa receptor-associated protein of the synapse

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.