Yale New Haven Hospital

Department of Laboratory Medicine
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Primary dystonia evaluation

Lab Section: 

Sendout Reference


Lab Location: 


Reference Lab: 

Athena Diagnostics


Test ID: 




Primary Dystonia Evaluation #639


Sanger Sequencing, Polymerase Chain Reaction (PCR), Fragment Size Analysis


Mon-Thurs by 12 noon


4 weeks

Specimen Requirements: 

Collection: 10.0 mL Whole Blood
Pediatric volume: 4 mL.
All sample must accompany Athena Diagnostics MD consent form.
Transport: Ship room temperature, avoid freezing.
Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable



Clinical Indications: Detects sequence variants in the THAP1 gene and deletions in the TOR1A gene in patients with Primary Dystonia or Isolated Dystonia. The movement disorder is characterized by isolated dystonia where it is the only neurologic finding except possibly tremor. The age of onset is typically in childhood or adolescence.

Reference Interval: 

See patient report or consult reference laboratory website.



CPT Code(s): 

81400, 81404

Last Changed: 

9/2/2017 2:12:27

Last Reviewed: 

9/2/2017 2:12:36