OPMD Repeat Expansion DNA Test
Abbrev Code: | XMISC | ||
Order Code: | LAB4909 | Order Name: | Oculopharyngeal Muscular Dystrophy |
Synonyms: | Oculopharyngeal Muscular Dystrophy | ||
Methodology: | Repeat expansion by PCR | ||
CPT Codes: | 81312 x1 | ||
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: | 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. |
Click HERE to Report test errors or omissions.
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