| Test code: | 300 |
| Type of disorder: | Neuromuscular Disorders |
| Disease(s) tested for: | Oculopharyngeal Muscular Dystrophy (OPMD) |
| Genes Included: |
PABPN1, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| 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. |
| Methodology: |
Repeat Expansion Detection by PCR
|
| Reference Range: | Normal: <=10 GCG trinucleotide repeats |
The CPT codes provided 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 payer being billed.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | 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 |
| Set-up/Analytic Time: | 14-21 days |
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