Comprehensive Epilepsy Panel EpilepsyP

Synonyms
Allscripts (AEHR) Order Name	Comprehensive Epilepsy Panel
Sunrise Clinical Manager (SCM) Order Name	Not Orderable
EPIC Order Name	Comprehensive Epilepsy Genetic Panel
Clinical Info	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
Specimen Type	Blood
Container	Lavender Top Tube
Collection Instructions	Container/Tube: Lavender Top Tube Specimen: 2-5 mL Blood Transport Temperature: Room Temperature
Transport Instructions	Room Temperature
Specimen Stability
Methodology	Next-Gen Sequencing Deletion/Duplication Analysis Genes: ADSL, ALDH5A1, ALDH7A1, ALG13, ANKRD11, ARG1, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, C12orf57, CACNA1A, CACNA1E, CACNA1G, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DNAJC5, DNM1, DOCK7, DYRK1A, EEF1A2, EHMT1, EPM2A, FGF12, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022 (NEXMIF), LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NR2F1, NRXN1, PACS1, PAFAH1B1, PCDH19, PHGDH, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRRT2, PURA, QARS, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SNAP25, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, TUBB2A, UBE3A, WDR45, WWOX
Days Performed
Performing Laboratory	GeneDx
CPT	71403 x 2 81404 x 2 81405 x 3 81406 x 4 81407 81479 81185 81189 81302 81304
PDM	1659905
Result Interpretation See Report TAT: 4 - 5 Weeks
Forms