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POLG DNA Sequencing Test (Alper's Syndrome)
Test Code901334
CPT Codes
81406<br>Restricted Client 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.
Avoid freezing.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years 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
Next Generation Sequencing
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
See Laboratory Report
Clinical Significance
Detection of sequence variants of POLG.

