Comprehensive Epilepsy NGS Panel

CPT: 81419
Updated on 09/2/2024
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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

14 - 28 days

14 - 28 days

14 - 28 days

14 - 28 days

14 - 28 days


Specimen Requirements


Specimen

Whole blood; oral swab or extracted DNA (from blood or oral swab only)

Whole blood, oral swab

Whole blood; oral swab or extracted DNA (from blood or oral swab only)


Volume

Whole blood: 4 mL; oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

4 mL, 1 swab

Whole blood: 4 mL; oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Minimum Volume

Whole blood: 2 mL; oral swab: 1 swab; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Container

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

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

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Collection

Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

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.

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.


Stability Requirements

Room temperature: whole blood: 14 days; swab: 60 days

Refrigerated: whole blood: 30 days; swab: 60 days

• Frozen: do not freeze

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

Refrigerated: Blood: 5 days; Swab: 60 days

Frozen: Do not freeze

Room temperature: whole blood: 14 days; swab: 60 days

Refrigerated: whole blood: 30 days; swab: 60 days

• Frozen: do not freeze


Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

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

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container


Test Details


Use

Diagnostic testing

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

Diagnostic testing


Limitations

This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

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

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

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

This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

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 to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)

Next-Generation Sequencing

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)


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

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