Analysis ID 124
Analysis location “GENESIS” Centre for Medical Genetics
OMIM #125370
Clinical information DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) is a progressive neurologic genetic disorder, with symptoms similar to spinocerebellar ataxias. The disorder is extremely rare within Caucasians, but in Japanese population it occurs with a frequency of 0.2-0.7:10000 and is presumably the most common type of ataxia. DRPLA is caused by dynamic mutations (expansion of trinucleotide CAG repeats) in the gene DRPLA ,coding atrofin protein 1. Characteristics symptoms involve ataxia, choreoathetosis, dementia, and others.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes DRPLA
Analysis description Analysis of a common dynamic mutation in the DRPLA gene
Analysis indication Symptoms of Dentatorubral-Pallidoluysian Atrophy
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders