DRPLA (ATN1) Repeat Expansion Test - Athena #401

Message

This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.

Test Code

DRPLA DNA(ATH#401)

Alias/See Also

Dentato Rubral Pallido Luysian Atrophy

Includes

Genes Included: ATN1

Preferred Specimen

Whole blood - Lavender EDTA - 3 tubes

Minimum Volume

Preferred: 8 mL
Minimum: 6 mL

Transport Temperature

Room temperature. Avoid freezing.

Specimen Stability

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

Methodology
Repeat Expansion Detection by PCR

Report Available

28 - 42 days

Reference Range

Provided with the patient report in CPRS.

Clinical Significance

Type of disorder: Movement Disorders

Typical presentation: Ataxia, chorea, progressive myoclonus epilepsy, dementia and psychiatric symptoms

Disease(s) tested for: Dentatorubralpallidoluysian Atrophy

Utility: Detection of CAG triplet repeat expansions in the DRPLA gene

Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752

Additional Information
Link to Athena Diagnostics test catalog

Last Updated: December 18, 2015

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.