Spinocerebellar Ataxia 1
Analysis ID 69
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Spinocerebellar Ataxia 1
OMIM #164400
Clinical information Spinocerebellar ataxia 1 is an autosomal dominant neurodegenerative genetic disorder. It belongs to a group of disorders called spinocerebellar ataxias. There are many clinical signs observed within the disease clinical spectrum such as ataxia, abnormal gait, dizziness, dysarthria, dysphagia, nystagmus, cerebellar atrophy, spasticity, neuropathy, epilepsy. Symptoms may appear at different age, usually during the 3rd or 4th decade. Molecularly, the disease is caused by expansion of CAG repeat in the ATXN1 gene, coding ataxin 1.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes ATXN 1
Analysis description Analysis of (CAG)n trinucleotide repeat in the ataxin-1 gene
Analysis indication Symptoms of Spinocerebellar Ataxia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics and Oncology