Dystonia (DYT1) DNA Test

Test Code

14678

CPT Codes
81400

Preferred Specimen

8 mL whole blood collected in an EDTA (lavender-top) tube

Pediatric volume: 2 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

6 mL
Pediatric volume: 1 mL

Instructions

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

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 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 Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days (Pediatric: 24 hours)
Frozen: Unacceptable

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

Gross hemolysis

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

Set up: As needed; Report available: 14-21 days

Report Available

21 Days

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

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.