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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
PRADER-WILLI/ANGELMAN SYNDROME DNA METHYLATION |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB2893 Geisinger Epic ID: 33424 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Specimen required: |
5 mL (min 3 mL) whole blood | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Room temperature. | |
Specimen stability: |
Room temperature: 8 days. Refrigerated: 8 days. Frozen: Unacceptable. | |
Rejection criteria: |
Frozen specimen. Stability limits exceeded. | |
TEST DETAILS |
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Interpretation guide: |
Interpretive report. | |
Additional information: |
This test will detect Prader-Willi or Angelman syndrome in a patient with clinical suspicion of either of these disorders. The test detects methylation changes in the chromosome 15 q11-13 region that are responsible for more than 99% of patients with Prader-Willi syndrome and about 80% of patients with Angelman syndrome. | |
CPT code(s): |
81331 | |
| 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: |
Detetion of Prader-Willi or Angelman syndrome. | |
Methodology: |
Polymerase Chain Reaction (PCR) Gel Electrophoresis |
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Synonyms: |
Quest test code 11369 PRWIAN
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Clinical significance: |
This test will detect Prader-Willi or Angelman syndrome in a patient with clinical suspicion of either of these disorders. | |