OPMD Repeat Expansion DNA Test


Sunquest Code:OCULMD  
Epic Code:LAB3645Epic Name:Oculopharyngeal Muscular Dystrophy
Synonyms:Oculopharyngeal Muscular Dystrophy
Methodology:Repeat expansion by PCR
CPT Code:81312
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:

Genetic Testing Consent Form



Collection Instructions

Specimen:Whole Blood
Optimal Volume:8 mL (adult); 2 mL (pediatric)
Minimum\Peds Volume:6 mL (adult); 1 mL (pediatric)
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.


Click HERE to Report test errors or omissions.
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