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
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Whole blood, oral swab
4 mL, 1 swab
Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only
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.
• Room temperature: Blood: 5 days; Swab: 60 days
• Refrigerated: Blood: 5 days; Swab: 60 days
• Frozen: Do not freeze
Frozen blood EDTA tube; insufficient swab cell collection; blood sample hemolyzed or clotted
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
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
|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||80563-0|
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