Disorders

TSEN54-Related Pontocerebellar Hypoplasia

Gene	Locus	Protein
TSEN54	17q25.1	tRNA-splicing endonuclease subunit Sen54

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands
CeGaT GmbH - Tuebingen, Germany
Cologne University, Institute of Human Genetics - Cologne, Germany	• Linkage analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.