Dystonia (DYT1) DNA Test

Test Code

4489

Quest Code

14678

Alias/See Also

Quest 14678; Sunquest: DYST; to Athena 626

CPT Codes
81400

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Preferred Specimen

8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL

Minimum Volume

6 mL • Pediatric: 1 mL

Instructions

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the test requisition.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Patients 0-3 years have higher WBC, yielding more DNA per mL of blood.

Notes: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Gross hemolysis • Received frozen

Methodology
Polymerase Chain Reaction (PCR) • Fragment Size Analysis

FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

As needed

Report Available

14-21 days at performing lab

Reference Range

See Laboratory Report

Clinical Significance

Detects GAG deletion in the DYT1 gene in patient with Dystonia-1, Torsion. Patients exhibit generalized or focal early-onset idiopathic torsion dystonia.

Performing Laboratory

Athena Diagnostics, Inc.

200 Forest Street 2nd Floor

Marlborough, MA 01752-3023

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.