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Specimen Collection Manual and Test Catalog

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COMPREHENSIVE EPILEPSY PANEL, GENEDX

Geisinger Epic Procedure Code:  LAB2068    Geisinger Epic ID:  47626
Test Restriction:  ORDER LIMITED TO GENETICS, PED NEURODEVELOPMENT, NEUROLOGY

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):  81403, 81189, 81404 x4, 81405 x2, 81406 x2, 81407
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: ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NR2F1, NRXN1, PACS1, PCDH19, PIGA, PIGN, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRRT2, PURA, QARS, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2.


Methodology: 
Deletion/Duplication Analysis
Next Generation Sequencing
Synonyms: 

GeneDx code 523, COMPEP


Review Date:  12/12/2024

Performing Locations