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Geisinger Medical Laboratories Test Catalog
COMPREHENSIVE NF PANEL NF1, SPRED1, NF2, AND SMARCB, GENEDX |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB2070 Geisinger Epic ID: 47638 | |
SPECIMEN COLLECTION |
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Specimen type: |
EDTA whole blood (preferred) OR 2 buccal swabs | |
Preferred collection container: |
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Alternate Collection Container: |
3 mL lavender-top (K2 EDTA) tube
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Specimen required: |
2-5 mL EDTA whole blood OR 2 buccal swabs | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Refrigerated. | |
Specimen stability: |
Refrigerated: 7 days. | |
TEST DETAILS |
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CPT code(s): |
81405 x2, 81406, 81408 | |
| 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: |
Genes: NF1, NF2, SMARCB1, SPRED1 | |
Methodology: |
Next Generation Sequencing Deletion/Duplication Analysis Multiplex Ligation-dependent Probe Amplification |
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Synonyms: |
GeneDx code 961 COMPNF
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Clinical significance: |
Establish or confirm a clinical diagnosis. Identification of at-risk family members. Development of an appropriate evaluation and management. Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies. | |