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Specimen Collection Manual and Test Catalog

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GAUCHER DISEASE, DNA MUTATION ANALYSIS

Geisinger Epic Procedure Code:  LAB2345    Geisinger Epic ID:  33433

SPECIMEN COLLECTION
Specimen type: 

Whole blood (preferred) OR chorionic villi biopsy OR amniotic fluid


Preferred collection container: 
Alternate collection container: 
4 mL green/green-top (sodium heparin) tube
Sterile centrifuge tube
T-25 flask filled with culture medium
Specimen required: 

4 mL (minimum 3 mL ) whole blood in pink-top EDTA tube (preferred) OR in green-top sodium heparin tube; OR 10 mL (minimum 10 mL) amniotic fluid in sterile, leak-proof container or two T-25 flasks filled with culture medium OR 10 mg (min 10 mg) chorionic villi in sterile, leak proof container or two T-25 flasks filled with culture medium.



SPECIMEN PROCESSING
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
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: 
Next Generation Sequencing
Polymerase Chain Reaction (PCR)
Synonyms: 

Gaucher's disease, Quest test code 90907, GDDNA


Review Date:  12/02/2024

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