Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Test Name: Sunquest Test Code Epic Procedure Code Or ID CPT Code:  

GAUCHER DZ DNA MUTATION

ORDERING INFORMATION:
Sunquest Test Code:
GDDNA      Geisinger Epic Procedure Code: GDDNA         Geisinger Epic ID: 33433

SPECIMEN COLLECTION
Specimen type:
Whole blood (preferred) OR chorionic villi biopsy OR amniotic fluid
Preferred collection container:
Alternate Collection Container:
T-25 flask filled with culture medium
Sterile centrifuge tube
4 mL green/green-top (sodium heparin) tube
Specimen required:
5mL (minimum 3 mL ) whole blood in lavender-top EDTA tube (preferred) OR in green-top sodium heparin tube; OR 20 mL (minimum 10 mL) amniotic fluid in sterile, leak-proof container or two T-25 flasks filled with culture medium OR 20 mg (min 10 mg) chorionic villi in sterile, leak proof container or two T-25 flasks filled with culture medium.

SPECIMEN PROCESSING
Specimen processing instructions:
Ship ambient immediately upon receipt. 
Transport temperature:
Room temperature.
Specimen stability:
Whole blood: Room temperature: 8 days. Refrigerated: 8 days. Frozen: Unnacceptable.
Chorionic villi or amnotic fluid: Room temperature: 48 hours. Refrigerated: Unacceptable. Frozen: Unacceptable.
Rejection criteria:
Frozen specimen.

TEST DETAILS
Interpretation guide:
Interpretive report.
CPT code(s):
81251
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:
Gaucher disease, DNA mutation analysis.
Methodology:
Polymerase Chain Reaction (PCR)
Allele specific primer extension
Fluorescent detection/color coded microspheres
Synonyms:
Gaucher's disease
Quest test code 90907

Performing Locations

Quest Diagnostics

Technical Lead: Michael Weaver    
Frequency: Tuesday, Saturday morning    
Performed stat? No
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