OPMD DNA Test - Athena #300

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

OPMD(ATH#300)

Alias/See Also

Oculopharyngeal Muscular Dustropy

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

14 - 28 days

Reference Range

Provided with patient report in CPRS.

Clinical Significance

Type of disorder: Neuromuscular Disorders

Typical presentation: Late onset weakness and wasting of the facial muscles with ophthalmoplegia and ptosis

Disease(s) tested for: Oculopharyngeal Muscular Dystrophy (OPMD)

Utility: Detects GCG trinucleotide expansions in the PABP2 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.