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OPMD Repeat Expansion Test
Test Code93114
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) tube
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Patient Preparation
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.
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
8 mL (6 mL) whole blood collected in two EDTA (lavender-top) tubes Pediatric (0-3 years): 2 mL (1 mL minimum) Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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
Setup Schedule
Set up: As needed; Report available: 14-21 days
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.
