Huntington disease
Analysis ID 53
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Huntington disease
OMIM 143100
Clinical information Huntington disease (HD) is caused by an expanded trinucleotide repeat (CAG), coding glutamine tract, in the gene encoding huntingtin. It is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, impaired coordination, cognitive degradation, and behavioral disturbances. There is a progressive, selective neural cell loss and atrophy in the corpus caudatum and putamen.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes HTT(IT15,HD)
Analysis description Analysis of the repetitive region containing trinucleotide (CAG)n of the IT15 gene - dynamic mutation
Analysis indication Symptoms of Huntington disease
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics and Oncology