Comprehensive Epilepsy NGS Panel

CPT: 81419
Print Share

Test Includes

This test includes: AARS, AASS, ABAT, ABCC8, ABCD1, ABCD4, ACADM, ACADS, ACADSB, ACO2, ACOX1, ACSF3, ACTB, ACTG1, ACVRL1, ACY1, ADAMTSL2, ADCK3, ADD3, ADK, ADNP, ADRA2B, ADSL, AFG3L2, AGA, AIFM1, AIMP1, AKT1, AKT2, AKT3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALPL, ALX3, ALX4, AMACR, AMER1, AMPD2, AMT, ANKLE2, ANKRD11, ANTXR1, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, APOA1BP, APOL2, APOL4, APOPT1, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGDIA, ARHGEF9, ARSA, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ATIC, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATR, ATRX, AUTS2, AVPR2, B3GALTL, BCAP31, BCKDHA, BCKDHB, BCL10, BCL11B, BCS1L, BOLA3, BRAT1, BSCL2, BTD, BUB1B, C10ORF2, C12ORF57, C2CD3, CACNA1A, CACNA1D, CACNA1G, CACNA1H, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CARS2, CASK, CASQ2, CASR, CBS, CCBE1, CCDC115, CCDC88A, CCDC88C, CCM2, CD96, CDK5, CDKL5, CECR1, CENPE, CENPJ, CEP164, CERS1, CFH, CFHR1, CFHR3, CHD1, CHD2, CHRNA2, CHRNA4, CHRNB2, CIC, CIT, CKAP2L, CLCN2, CLCN4, CLCNKA, CLCNKB, CLDN16, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CNKSR2, CNNM2, CNTN2, CNTNAP2, COG2, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COL4A3BP, COL6A2, COQ2, COQ4, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CPA6, CPS1, CPT1A, CPT2, CRB2, CREBBP, CRIPT, CRLF1, CSNK2A1, CSTB, CTC1, CTLA4, CTSA, CTSD, CTSF, CUL4B, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DAG1, DBT, DCHS1, DCX, DDC, DDX3X, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHFR, DIAPH1, DIP2B, DLD, DNAJC5, DNASE1, DNM1, DNM1L, DOCK6, DOCK7, DONSON, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYNC2H1, DYRK1A, EARS2, EBP, ECE1, ECM1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EML1, ENG, EPG5, EPM2A, ERCC6, ERCC8, ESCO2, ETHE1, EXT2, FA2H, FADD, FAM111A, FAR1, FARS2, FASTKD2, FAT4, FBP1, FBXL4, FCGR2A, FCGR2B, FGD1, FGF12, FGF3, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FMN2, FOLR1, FOXG1, FOXRED1, FRMPD4, FRRS1L, FTL, FTO, FUCA1, FXYD2, GABRA1, GABRB1, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATM, GBA, GCDH, GCH1, GCK, GCM2, GCSH, GFAP, GFM1, GJA1, GJC2, GK, GLA, GLB1, GLDC, GLI2, GLRA1, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNAS, GNB1, GNE, GNS, GOSR2, GPC3, GPHN, GPR56, GPR98, GPX4, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GUCY1A3, GUF1, GYS2, H19, HACE1, HADH, HAX1, HCCS, HCFC1, HCN1, HCN4, HECW2, HEPACAM, HERC1, HEXA, HGSNAT, HIBCH, HIVEP2, HLA-DQA1, HLA-DQB1, HLCS, HMBS, HNRNPH2, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HSPD1, HYLS1, IBA57, ICK, IDS, IER3IP1, IFNG, IKBKG, INSR, IQSEC2, IRF3, ISG15, ITPA, IVD, JAK2, JAM3, KANSL1, KAT6A, KAT6B, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNH2, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KIAA0226, KIAA2022, KIF11, KIF14, KIF2A, KIF5C, KIF7, KLHL15, KMT2A, KMT2C, KMT2D, KRAS, KRIT1, KRT8, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMC3, LARGE, LARS, LARS2, LAS1L, LBR, LGI1, LIAS, LIPT2, LMAN2L, LMNB2, LONP1, LYST, MAF, MAGEL2, MAGI2, MANBA, MAPRE2, MBD5, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCPH1, MECP2, MED12, MED17, MEF2C, MFF, MFSD2A, MFSD8, MGAT2, MGP, MLC1, MLH1, MLYCD, MMAA, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDZ, MRPS22, MSH2, MSH6, MSX2, MTHFR, MTOR, MTR, MTRR, MYH3, MYO5A, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAT8L, NBAS, NDE1, NDN, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NGLY1, NHLRC1, NIN, NIPBL, NLGN4X, NOL3, NONO, NOTCH3, NPC1, NPC2, NPRL2, NPRL3, NRAS, NRXN1, NSD1, NSDHL, NUBPL, NUS1, OBFC1, OCLN, OCRL, OFD1, OMG, OPHN1, OSGEP, OTC, OTX2, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PAX2, PAX6, PC, PCCA, PCCB, PCDH19, PCLO, PDCD10, PDHA1, PDHX, PDP1, PDSS2, PET100, PEX1, PEX2, PEX5, PEX7, PGAP3, PGBD3, PGK1, PHF6, PHGDH, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PLA2G6, PLCB1, PLEKHG2, PLK4, PLP1, PMM2, PMS2, PNKD, PNKP, PNPLA8, PNPO, POLG, POLG2, POMGNT1, POMT1, POMT2, PPA2, PPP1R15B, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRF1, PRICKLE1, PRICKLE2, PRKDC, PRMT7, PROC, PRODH, PROK2, PROKR2, PROP1, PROSC, PRPS1, PRRT2, PRRX1, PSAP, PSAT1, PSEN1, PSPH, PTCH1, PTCH2, PTEN, PTF1A, PTH, PTPN22, PTS, PURA, PUS3, PYCR2, QARS, QDPR, RAB18, RAB27A, RAB39B, RAC1, RAI1, RARS2, RBM8A, RELN, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, ROGDI, RPIA, RPS6KA3, RRM2B, RTN4IP1, RTTN, RYR2, SAMD9, SAMHD1, SASS6, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, SDHA, SDHAF1, SDHD, SEPSECS, SERPINI1, SETBP1, SETD2, SGCE, SGPL1, SGSH, SHANK3, SHH, SIK1, SIN3A, SIX3, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC19A2, SLC19A3, SLCA2, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC35C1, SLC39A8, SLC46A1, SLC4A1, SLC6A1, SLC6A19, SLC6A8, SLC6A9, SLC9A6, SMAD4, SMARCA2, SMARCB1, SMC1A, SMC3, SMG9, SMS, SNAP25, SNAP29, SNIP1, SNORD118, SNRPN, SNX14, SON, SOX2, SPATA5, SPR, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STIL, STRADA, STX11, STX1B, STXBP1, SUCLA2, SUFU, SUOX, SURF1, SYN1, SYNGAP1, SYP, SZT2, TACO1, TANGO2, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TCIRG1, TDP2, TECPR2, TGDS, THOC2, TIMMDC1, TMEM126B, TMTC3, TP53, TP53RK, TPP1, TRAPPC11, TREM2, TREX1, TRIO, TRPM6, TSC1, TSC2, TSEN15, TSEN54, TSFM, TTR, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB4A, TUBG1, TUBGCP6, TXN2, TYROBP, UBA5, UBB, UBE2A, UBE3A, UBTF, UNC80, UPB1, USP18, VARS, VDR, VPS11, VPS13A, VPS53, WAC, WDR45, WDR62, WDR73, WFS1, WWOX


Expected Turnaround Time

28 days


Specimen Requirements


Specimen

Whole blood, oral swab


Volume

4 mL, 1 swab


Container

Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only


Storage Instructions

Blood: ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze. Swab: 60 day post-collection at room temperature.


Stability Requirements

Room temperature: Blood: 5 days; Swab: 60 days

Refrigerated: Blood: 5 days; Swab: 60 days

Frozen: Do not freeze


Causes for Rejection

Frozen blood EDTA tube; insufficient swab cell collection; blood sample hemolyzed or clotted


Test Details


Use

Epilepsy is a chronic seizure disorder characterized by seizures that usually recur unpredictably in the absence of a consistent provoking factor. Most epilepsy syndromes are genetically heterogeneous; pathogenic variants in different genes cause the same syndrome in different individuals or families, and only a fraction of the potential genetic causes have so far been identified. Genetic assessment is enhanced when clinical information is available. Although a positive test result can confirm or suggest that an individual has a specific syndrome, a negative test result might be uninformative. For instance, fewer than one in five individuals with autosomal dominant nocturnal frontal lobe epilepsy have a pathogenic variant in any of the genes currently associated with that disorder. Conversely, in syndromes with incomplete penetrance and variable expressivity, a positive test result in an unaffected family member does not necessarily mean that the individual will develop epilepsy in the future, nor can it predict the specific phenotype if the individual does. An important example of this problem is genetic epilepsy with febrile seizures plus (GEFS+), in which some family members with a SCN1A variant remain unaffected, and phenotypes in affected family members vary from simple age limited febrile seizures to severe epileptic encephalopathies.1


Limitations

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Next-Generation Sequencing


Footnotes

1. Poduri A, Sheidley BR, Shostak S, Ottman R. Genetic Testing in the Epilepsies-Developments and Dilemmas. Nat Rev Neurol. 2014 May;10(5):293-299.24733164

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
630268 Comprehensive Epilepsy Panel 630270 Result 55232-3
630268 Comprehensive Epilepsy Panel 630271 Interpretation 51971-0
630268 Comprehensive Epilepsy Panel 630272 Footnotes 8251-1
630268 Comprehensive Epilepsy Panel 630866 PDF 80563-0

For Providers

Please login to order a test

Order a Test

© 2021 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf