Disorders

ARSACS

Synonym(s): Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Charlevoix-Saguenay Spastic Ataxia, Spastic Ataxia of Charlevoix-Saguenay, Spastic Ataxia, Charlevoix-Saguenay Type

GeneReview OMIM

Gene	Locus	Protein
SACS	13q11	Sacsin

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada	• Targeted mutation analysis
Opmedic Group Inc., Genetic Laboratory - Mont-Royal, Canada	• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany

^* 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.