Test Directory

Clinical significance

Torsion dystonia is an autosomal dominant genetic disorder characterized by sustained, involuntary muscle contractions. Hereditary dystonia can be classified as follows:

1) Primary dystonia

2) Dystonia-plus

3) Heredo-degenerative dystonia

4) Paroxysmal dyskinesias with dystonia

A loss-of-function mutation within the dystonia-1 (DYT1) gene located on 9q34 is most commonly found in the majority of patients. The c.907_909delGAG mutation is the most common form, and prenatal testing is possible in cases with confirmed family history.

Specimen Collection Instructions

● Collection Method: Collect peripheral blood in a sterile manner, mix it well to prevent coagulation, and transport it immediately to the laboratory. In unavoidable circumstances, maintain refrigeration during transportation.

● When requesting the test, provide sufficient clinical information, the purpose of the request, and previous results along with the test request form and the genetic test consent form.

Clinical symptoms

Aortic arch abnormalities, tetralogy of Fallot defects, ventricular septal defects, craniofacial deformities, mental retardation, hypoparathyroidism, hypocalcemia, delayed growth and development, behavioral and learning disabilities, etc.