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OPMD Repeat Expansion Test
Test Code93114
CPT Codes
81312<br>Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes, or
Pediatric volume: 2 mL whole blood
Pediatric volume: 2 mL whole blood
Minimum Volume
6 mL • 1 mL pediatric
Instructions
Informed consent required.
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.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Repeat Expansion Detection by Polymerase Chain Reaction
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: Varies; Report available: 14-21 days
Reference Range
Normal (≤10)
Carrier (11)
Positive (≥12)
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.