MOLECULAR STUDY - MYOCLONIC TORSION DYSTONIA - DYT6 (SEQUENCING GENE THAP1), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4014

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. It has been reported in two Amish-Mennonite families. Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia. DYT6 is caused by mutations in the THAP1 gene (on chromosome 8) and is transmitted as an autosomal dominant trait. Last update: April 2009

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