Yale New Haven Hospital

Department of Laboratory Medicine
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THAP1 (DYT6) DNA sequencing

Lab Section: 

Sendout Reference

 

Lab Location: 

Sendout

Reference Lab: 

Athena Diagnostics

 

Test ID: 

LAB7307

 

Synonyms: 

THAP1 (DYT6) # 618 Athena Diag

Methodology: 

Sanger Sequencing

Schedule: 

Daily

Reported: 

30 days

Specimen Requirements: 

Collection: 8.0 mL Blood in a Lavender Top Tube.
Pediatric volume: 6 mL.
Whole blood, Lavender EDTA
Transport: Ship room temperature, avoid freezing.
Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable

 

Notes: 

Clinical Indications: Detection for sequence variants THAP1 gene in patients with Dystonia 6, torsion (DYT6). The dystonia involves the limbs and craniocervical region, and speech is often affected. DYT6 often progresses to generalized dystonia and the onset is in childhood.

Reference Interval: 

See patient report or consult reference laboratory website.

 http://www.athenadiagnostics.com/view-full-catalog/t/thap1-(dyt6)-dna-sequencing-test

CPT Code(s): 

81404

Last Changed: 

8/16/2017 3:24:45

Last Reviewed: 

8/16/2017 3:24:45