MOLECULAR STUDY PRIMARI DYSTONIA (ANO3, CIZ1,GNAL,THAP1,TOR1A), NEXT GEN SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4328

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	92 days
Information:
Dystonia is characterized by involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. The primary dystonias are those with no other neurologic abnormalities. Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked phenotypic but also etiologic heterogeneity. Primary dystonias were originally described as "idiopathic" since no neurophysiologic, neurochemical, or pathologic findings provided clues to the underlying etiology; however, many are now known to have a genetic basis. Isolated dystonia can be caused by mutations in TOR1A (DYT1), THAP1 (DYT6), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25). With the availability of specific genet next-generation sequencing panels, a large number of patients would benefit from appropiate genetic diagnosis.

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