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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
PMP22 DUPLICATION/DELETION TEST |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB2865 Geisinger Epic ID: 19195 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Specimen required: |
8 mL (minimum 6 mL) EDTA whole blood. Pediatric volume: 2 mL (minimum 1 mL) | |
Special notes: |
Available Monday through Thursday only. 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 have higher WBC, yielding more DNA per mL of blood. | |
| SPECIMEN PROCESSING |
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Specimen processing instructions: |
Do not centrifuge or refrigerate. | |
Transport temperature: |
Room temperature. Sample must arrive in at referral lab Monday through Thursday a.m. | |
Specimen stability: |
Room Temperature: 10 days. Refrigerated: 10 days. Frozen: Unacceptable. | |
Rejection criteria: |
Frozen specimens unacceptable. Stability limits exceeded. | |
TEST DETAILS |
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CPT code(s): |
81324 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Test includes: |
Rearrangements in the PMP22 gene. This test performs both duplication and deletion analysis to detect the cause of CMT1A and HNPP. | |
Methodology: |
Multiplex Ligation-dependent Probe Amplification |
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Synonyms: |
PMP22D, Quest test code 824
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