Disorders


 

Spinocerebellar Ataxia Type 5


Synonym(s): SCA 5, SCA5, Spinocerebellar Ataxia with Sensory Axonal Neuropathy

 

OMIM

GeneLocusProtein
SPTBN211q13.2Spectrin beta chain, brain 2

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Mutation scanning of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• 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.

Loading...