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Geisinger Medical Laboratories Test Catalog
GAUCHER DISEASE, DNA MUTATION ANALYSIS |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB2345 Geisinger Epic ID: 33433 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood (preferred) OR chorionic villi biopsy OR amniotic fluid | |
Preferred collection container: |
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Alternate Collection Container: |
T-25 flask filled with culture medium
Sterile centrifuge tube
4 mL green/green-top (sodium heparin) tube
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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 |
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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. |
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Rejection criteria: |
Frozen specimen. | |
TEST DETAILS |
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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) Next Generation Sequencing |
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Synonyms: |
Gaucher's disease Quest test code 90907 GDDNA
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