- Epilepsy is a condition of the brain that causes a disruption of the electrical communication between neurons that leads to seizures. It is a neurological condition that affects the nervous system (1). In many cases, seizures result in convulsion and loss of consciousness and can lead to changes in personality, mood, memory, sensation, and movement. Blank stares, lip smacking, intermittent eye movements, and jerking movements of the extremities are all examples of possible manifestations of seizures. Around 65 million people in the world have epilepsy (1). Mutations in certain genes have been identified as causes of brain malformations, which can lead to epilepsy. Mutations in genes that are responsible for determining brain cell location, ion channels, and nerve cells can potentially cause epilepsy (2). Genetic testing is recommended to help scientists and physicians better understand how various genes interact to produce a specific epilepsy syndrome. It can also help affected individuals and their family members assess risks and better understand their specific epilepsy syndrome (1).
- Genes (463):
ABAT, ABCB1, ABCC2, ABCC8, ACOX1, ACY1, ADCK3, ADRA2B, ADSL, AGA, AHI1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, ANK3, APTX, ARFGEF2, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASAH1, ASPA, ASPM, ATIC, ATN1, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP6AP2, ATP6V0A2, ATP7A, ATPAF2, ATR, ATRX, B4GALT1, BCKDHA, BCKDHB, BCKDK, BCS1L, BRAF, BRAT1, BTD, BUB1B, C12orf57, C12ORF65, CACNA1A, CACNA1H, CACNA2D1, CACNB4, CASK, CASR, CBL, CC2D2A, CCDC88C, CCL2, CDK5RAP2, CDKL5, CDON, CELSR1, CENPJ, CEP152, CEP290, CERS1, CFTR, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, CLCNKA, CLCNKB, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COMT, COQ2, COQ9, COX10, COX15, CPA6, CPT1A, CPT2, CSTB, CTRC, CTSA, CTSD, CUL4B, CYP1B1, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP2R1, CYP2U1, CYP3A5, DBT, DCX, DDC, DDOST, DHCR7, DLD, DNAJC5, DOLK, DPAGT1, DPM1, DPM3, DPYD, DRD2, DYRK1A, EEF1A2, EFHC1, EFHC2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EOMES, EPM2A, ETFA, ETFB, ETFDH, EXOSC3, FAAH, FGD1, FGF8, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FOXG1, FOXH1, FUCA1, GABRA1, GABRA2, GABRB3, GABRD, GABRG2, GALC, GALNS, GAMT, GATM, GCDH, GCSH, GFAP, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GLUL, GNAO1, GNE, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GPHN, GPR56, GPR98, GRIA3, GRIN1, GRIN2A, GRIN2B, GUSB, HCN1, HCN4, HERC2, HEXA, HEXB, HGSNAT, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HTR2A, HYAL1, IDH2, IDS, IDUA, IER3IP1, INPP5E, IQSEC2, KANSL1, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNV2, KCTD7, KDM5C, KIAA1279, KMT2D, KRAS, L2HGDH, LAMA2, LARGE, LBR, LGI1, LIAS, LIG4, LRPPRC, MAGI2, MAGT1, MAP2K1, MAP2K2, MAPK10, MBD5, MCOLN1, MCPH1, MECP2, MED12, MED17, MEF2C, MET, MFSD8, MGAT2, MGME1, MLC1, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTOR, MTR, MTRR, NAGLU, NALCN, NDE1, NDUFA1, NDUFA2, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEU1, NF1, NHEJ1, NHLRC1, NIPBL, NODAL, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NRXN1, OFD1, OPA1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PC, PCDH19, PCNT, PDHA1, PDHX, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM1, PHF6, PHGDH, PIGA, PIGV, PIK3CA, PIK3R2, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRODH, PRRT2, PRSS1, PSAP, PSAT1, PTCH1, PTPN11, QDPR, RAB39B, RAB3GAP1, RAF1, RAI1, RARS2, RBFOX1, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RPGRIP1L, RTTN, SAMHD1, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SERPINI1, SETBP1, SGCE, SGSH, SHH, SHOC2, SIX3, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC4A10, SLC6A1, SLC6A4, SLC6A5, SLC9A6, SMC1A, SMC3, SMPD1, SMS, SNAP29, SNIP1, SOS1, SPINK1, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TBC1D24, TBX1, TCF4, TGIF1, TMEM165, TMEM216, TMEM67, TMEM70, TPP1, TREX1, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUSC3, UBE2A, UBE3A, VANGL1, VPS13A, VPS13B, VRK1, WDR62, ZEB2, and ZIC2
- Test Code: 5045
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Epilepsy Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81223×1, 81290×1, 81291×1, 81302×1, 1311×1, 81401×1, 81493×4, 81404×19, 81405×34, 81406×44, 81407×10, 81408×5, 81479×341
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Cerebellar Hypoplasia Panel
Central Hypoventilation Panel