Spastic paraplegia 17
Analysis ID 238
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Spastic paraplegia 17
OMIM #270685
Clinical information Spastic paraplegia type 17 belongs to a group of genetic disorders known as hereditary spastic paraplegias, which are all characterized by progressive muscle spasticity, frequently associated with the development of paresis of lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types subdivide into a number of subtypes, based on their molecular heterogeneity.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes BSCL2
Analysis description Sequencing of the entire coding region of the BSCL2 gene
Analysis indication Symptoms of Spastic paraplegia 17
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders