Disorders


 

Spinocerebellar Ataxia, Autosomal Recessive, 9


Synonym(s): SCAR9

 

OMIM

GeneLocusProtein
ADCK31q42.11Chaperone activity of bc1 complex-like, mitochondrial

Laboratory Test Method Prenatal Carrier *
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
  
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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