Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

PRADER-WILLI/ANGELMAN SYNDROME DNA METHYLATION

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB2893         Geisinger Epic ID: 33424

SPECIMEN COLLECTION
Specimen type:
Whole blood
Preferred collection container:
Specimen required:
5 mL (min 3 mL) whole blood

SPECIMEN PROCESSING
Transport temperature:
Room temperature.
Specimen stability:
Room temperature: 8 days. Refrigerated: 8 days. Frozen: Unacceptable.
Rejection criteria:
Frozen specimen. Stability limits exceeded.

TEST DETAILS
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
Synonyms:
Quest test code 11369
PRWIAN
Clinical significance:
This test will detect Prader-Willi or Angelman syndrome in a patient with clinical suspicion of either of these disorders.

Performing Locations

Quest Diagnostics

Technical Lead: Michael Weaver    
Frequency: Tuesday afternoon    
Performed stat? No
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