DRPLA (ATN1) Repeat Expansion DNA Test


Sunquest Code:DRPLA  
Epic Code:LAB3436Epic Name:Dentatorubrapallidotuysian Atrophy DNA
Synonyms:Dentatorubrapallidotuysian Atrophy
Methodology:Repeat expansion detection by PCR
CPT Code:81177
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:Blood
Optimal Volume:8 mL (adult); 2 mL (pediatric)
Minimum\Peds Volume:6 mL (adult); 1 mL (pediatric)


Processing and Shipping

Specimen Processing:Whole blood. Do not process. Store at room temperature or refrigerated.
Shipping Instructions:Ship at room temperature. Protect from temperature extremes.
Test Performed at or Referral Lab Lab Sendouts  (Athena Diagnostics)
Referral Lab number:401


Interpretive

Reference Range:Normal: Both alleles have less than or equal to 35 CAG repeats.
Use:Detection of CAG triplet repeat expansions in the DRPLA gene.


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