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PMP22 DNA Sequencing Test
Test Code92369
CPT Codes
81325
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 years): 2 mL (1 mL minimum)
Pediatric (0-3 years): 2 mL (1 mL minimum)
Minimum Volume
6 mL
Instructions
Note: Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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.
DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
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.
DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis
Methodology
Next Generation Sequencing
Setup Schedule
Set up: As needed; Report available: 21-28 days
Report Available
28 Days
Reference Range
See Laboratory Report
Clinical Significance
Detects sequence variants in the PMP22 gene in patients with Charcot-Marie-Tooth (CMT).
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
