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DRPLA (ATN1) Repeat Expansion Test
Test Code92910
CPT Codes
81177<br /> Limited Access Code
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL whole blood
Pediatric (0-3 Years): 2 mL whole blood
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years may have higher WBC, yielding more DNA per mL of blood.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years may have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Repeat Expansion Detection by Polymerase Chain Reaction
Setup Schedule
Set up: Varies; Report available: 14-21 days
Reference Range
Technical Results:
Normal (≤35)
Borderline (36-47)
Positive (≥48)
Normal (≤35)
Borderline (36-47)
Positive (≥48)
Clinical Significance
Detection of CAG triplet repeat expansions in the DRPLA gene.
Typical Presentation: Ataxia, chorea, progressive myoclonus epilepsy, dementia and psychiatric symptoms.
Typical Presentation: Ataxia, chorea, progressive myoclonus epilepsy, dementia and psychiatric symptoms.
