Disorders


 

Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive


Synonym(s): SCAN1

 

GeneReviewOMIM

GeneLocusProtein
TDP114q32.11Tyrosyl-DNA phosphodiesterase 1

Laboratory Test Method Prenatal Carrier *
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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