OPMD Repeat Expansion DNA Test
| Sunquest Code: | XMISC | ||
| Epic Code: | LAB4909 | Epic Name: | Oculopharyngeal Muscular Dystrophy |
| Synonyms: | Oculopharyngeal Muscular Dystrophy | ||
| Methodology: | Repeat expansion by PCR | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Fri; results are reported within 14-21 days. | ||
| Special Instructions: | A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. | ||
| Associated Links: | |||
Collection Instructions
| Specimen: | Whole Blood |
| Optimal Volume: | 8 mL (adult); 2 mL (pediatric) |
| Minimum\Peds Volume: | 6 mL (adult); 1 mL (pediatric) |
| Container: | Purple (EDTA) |
| Causes for Rejection: | Frozen specimen. Genetic counselor will notify referring physician of any missing requirements. |
Processing and Shipping
| Specimen Processing: | Do not process. Store at room temperature or refrigerated. |
| Shipping Instructions: | Ship at room temperature. Protect from temperature extremes. |
| Stability: | Stability: 10 days at room temperature or refrigerated. |
| Test Performed at or Referral Lab | Lab Sendouts (Athena Diagnostics) |
| Referral Lab number: | 300 |
Interpretive
| Reference Range: | Normal: ≤10 GCG trinucleotide repeats. |
| Use: | Detects GCG trinucleotide expansions in the PABPN1 gene. |
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