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 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

edit