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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
NOONAN AND COMPREHENSIVE RASOPATHIES PANEL, GENEDX |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB4035 Geisinger Epic ID: 167403 | |
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): |
81442 | |
| 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: |
A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SOS1, SOS2, SPRED1 | |
Methodology: |
Deletion/Duplication Analysis Next Generation Sequencing |
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Synonyms: |
GENEDX CODE TA06, NOONAN PANEL
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Clinical significance: |
Diagnosis in a patient based on clinical diagnosis. Diagnosis for known familial pathogenic variant(s). Distinguish between causes and forms of RASopathies and disorders with phenotypically similar clinical presentations. Genetic counseling, especially regarding recurrence risk. | |