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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
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Informed consent required.
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.
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.
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.
