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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
SPINAL MUSCLE ATROPHY (SMA )CARRIER SCREEN |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB3079 Geisinger Epic ID: 44139 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Alternate Collection Container: |
6 mL pink-top K2 EDTA tube
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Specimen required: |
4 mL whole blood; minimum 2 mL | |
| SPECIMEN PROCESSING |
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Specimen processing instructions: |
Store and ship room temperature immediately. Do not freeze. | |
Transport temperature: |
Room temperature. | |
Specimen stability: |
Room temperature: 8 days. Refrigerated: 14 days. Frozen: Unacceptable. | |
Rejection criteria: |
Frozen specimens. Clotted specimens. | |
TEST DETAILS |
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CPT code(s): |
81329 | |
| 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: |
SMA carrier screen. | |
Methodology: |
Allele Specific Real-Time Polymerase Chain Reaction (PCR), ddCt Method |
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Synonyms: |
Quest test code 39445, Spinal Muscular Atrophy Carrier Screen SMACT
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Clinical significance: |
This tests for symptomless carriers of Spinal Muscular Atrophy (SMA). | |