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Specimen Collection Manual and Test Catalog

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COMPREHENSIVE NF PANEL NF1, SPRED1, NF2, AND SMARCB, GENEDX

Geisinger Epic Procedure Code:  LAB2070    Geisinger Epic ID:  47638

SPECIMEN COLLECTION
Specimen type: 

EDTA whole blood (preferred) OR 2 buccal swabs


Preferred collection container: 
Alternate collection container: 
3 mL lavender-top (K2 EDTA) tube
Specimen required: 

2-5 mL EDTA whole blood OR 2 buccal swabs



SPECIMEN PROCESSING
Transport temperature: 

Refrigerated.


Specimen stability: 

Refrigerated: 7 days.



TEST DETAILS
CPT code(s):  81405x2, 81406x1, 81408x1, 81479x3
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: 
Deletion/Duplication Analysis
Multiplex Ligation-dependent Probe Amplification
Next Generation Sequencing
Synonyms: 

GeneDx code 961, COMPNF


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.


Review Date:  12/12/2024

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