Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Test Name: Sunquest Test Code Epic Procedure Code Or ID CPT Code:  

CHILDHOOD-ONSET EPILEPSY PANEL, GENEDX

ORDERING INFORMATION:
Sunquest Test Code:
COEPPL      Geisinger Epic Procedure Code: COEPPL         Geisinger Epic ID: 47630

SPECIMEN COLLECTION
Specimen type:
EDTA whole blood (preferred) OR 2 buccal swabs OR 30-40 mL oral rinse
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 OR 30-40 mL oral rinse.

SPECIMEN PROCESSING
Transport temperature:
Room temperature.
Specimen stability:
Room temperature: 7 days.

TEST DETAILS
CPT code(s):
81189, 81404, 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, ATP1A3, ATRX, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DDX3X, DEPDC5, DYRK1A, EEF1A2, EHMT1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNA2, KCNC1, KCNMA1, KCNT1, KCTD7, KDM6A, KIAA2022, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NRXN1, PACS1, PCDH19, PIGN, PNKP, POLG, PPP2R5D, PPT1, PURA, SCN1A, SCN1B, SCN2A, SLC19A3, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, STX1B, SYNGAP1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2.
Methodology:
Next Generation Sequencing
Deletion/Duplication Analysis
Synonyms:
GeneDx code 542
Clinical significance:
Molecular confirmation of a clinical diagnosis. To assist with decisions about treatment and management of individuals with epilepsy. Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member. Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.

Performing Locations

GeneDx

Technical Lead: Michael Weaver    
Frequency: Turnaround Time: 4 weeks    
Performed stat? No
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