OPMD Repeat Expansion Test

Test Code

93114

CPT Codes
81312<br>Limited Access Code

Preferred Specimen

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

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 requisition form.

Note: 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.

Transport Temperature

Room temperature

Specimen Stability

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

Methodology
Repeat Expansion Detection by PCR

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 the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Varies; Report available: 14-21 days

Reference Range

Normal (≤10)
Carrier (11)
Positive (≥12)

Clinical Significance

Detects GCN trinucleotide expansions in the PABPN1 gene in patients with a late onset of weakness, wasting of the facial muscles, ophthalmoplegia, and ptosis.

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.