Disorders


 

TSEN54-Related Pontocerebellar Hypoplasia


 

OMIM

GeneLocusProtein
TSEN5417q25.1tRNA-splicing endonuclease subunit Sen54

Laboratory Test Method Prenatal Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands• Sequence analysis of the entire coding region
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Cologne University, Institute of Human Genetics - Cologne, Germany• Sequence analysis of the entire coding region
• Linkage analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, 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
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.

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