Torsion Dystonia: TOR1A Targeted Sequencing

Diagnostic Use

TOR1A sequencing may be used to confirm a diagnosis of early-onset torsion dystonia (DYT1). Early-onset torsion dystonia represents the commonest and most severe form of hereditary dystonia. It is an autosomal dominantly inherited movement disorder characterised by twisting muscle contractures that usually begins in childhood. Almost all cases are due to a deletion of nucleotides 904 to 906 of the TOR1A gene on chromosome 9q34 resulting in the loss of one of a pair of glutamic acid residues in a conserved region of the ATP-binding protein torsinA. Penetrance is estimated at 30% (70% of individuals who inherit the mutation do not develop DYT1).


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests


Early-onset torsion dystonia
hereditary dystonia
Primary dystonia

Turnaround Time

4 weeks

Test Code