Disorders

Infantile-Onset Spinocerebellar Ataxia

Synonym(s): Infantile Onset Spinocerebellar Ataxia, IOSCA, Ohaha Syndrome

Gene	Locus	Protein
C10orf2	10q24	Twinkle protein

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Praxis fuer Humangenetik Wien - Vienna, Austria
Transgenomic - New Haven, CT, USA

^* 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.