Disorders


 

SYNE1-Related Autosomal Recessive Cerebellar Ataxia


 

GeneReviewOMIM

GeneLocusProtein
SYNE16q24.2-q25.3Nesprin-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• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 

* 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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