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Dystonia (DYT1) DNA Test
Test CodeDystonia (DYT1) DNA Test
Quest Code
14678
Alias/See Also
DYT1
DNA (Gene) Test
DNA (Gene) Test
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
Pediatric volume: 2 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
6 mL
Pediatric volume: 1 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.
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
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
Last Updated: September 10, 2019