Disorders

SYNE1-Related Autosomal Recessive Cerebellar Ataxia

Gene	Locus	Protein
SYNE1	6q24.2-q25.3	Nesprin-1

Laboratory	Test Method	Prenatal	Carrier *
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand	• Mutation scanning of select exons
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Targeted mutation analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.