Cost $5,500.00 TAT 6 weeks CPT Code 81415 81416 Test Code 6106 Test Information Sheet Test Methods Exome sequencing Specimen Types Accepted Blood Saliva Cultured Cells Extracted DNA Documents Epilepsy Exome Requisition Form Epilepsy Exome Gene List Disorders Early infantile epileptic encephalopathy Epilepsy Non-syndromic forms of epilepsy Syndromic forms of epilepsy Genes AAAS AASS ABAT ABCC8 ABCD1 ACADM ACADS ACO2 ACOX1 ACSF3 ACTB ACTG1 ACVR1 ACY1 ADAR ADCK3 ADK ADRA2B ADSL AFG3L2 AGA AGTR2 AHI1 AIFM1 AIMP1 AKT2 AKT3 ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALG1 ALG11 ALG13 ALG2 ALG3 ALG6 ALG9 ALMS1 AMACR AMER1 AMT ANKRD11 AP4E1 ARFGEF2 ARG1 ARHGEF15 ARHGEF9 ARID1A ARID1B ARL13B ARSA ARX ASAH1 ASL ASNS ASPA ASS1 ASXL1 ATIC ATN1 ATP1A2 ATP1A3 ATP6AP2 ATP6V0A2 ATP7A ATRX ATXN10 AUH AVPR2 B3GALNT2 B3GNT1 BCAP31 BCKDHA BCKDHB BCKDK BOLA3 BRAF BRAT1 BTD BUB1B C10ORF2 C12orf57 C5orf42 CACNA1A CACNA1D CACNA2D2 CACNB4 CASK CASQ2 CASR CBS CC2D2A CCBE1 CCDC88C CCM2 CDKL5 CEP290 CEP41 CHD2 CHKB CHRNA2 CHRNA4 CHRNB2 CLCN1 CLCN2 CLCN4 CLDN16 CLIC2 CLN3 CLN5 CLN6 CLN8 CLPP CNTN2 CNTNAP2 COA5 COG4 COG6 COG8 COL4A1 COL4A2 COQ2 COQ9 COX10 COX14 COX15 COX20 COX6B1 CPA6 CPS1 CPT2 CRH CRLF1 CSPP1 CSTB CTC1 CTSD CTSF CUL4B CYP27A1 CYP27B1 D2HGDH DBT DCX DEPDC5 DHFR DMD DNAJC5 DOCK6 DOCK7 DOLK DPAGT1 DPM1 DPM2 DPYD DPYS DYNC1H1 DYRK1A EARS2 ECM1 EEF1A2 EFHC1 EFTUD2 EHMT1 ELOVL4 EMX2 EPG5 EPM2A ERLIN2 ERMARD ETHE1 EXOSC3 FA2H FADD FARS2 FASTKD2 FBXL4 FKRP FKTN FLNA FMR1 FOLR1 FOXG1 FTO FUCA1 GABRA1 GABRA3 GABRG2 GALC GAMT GATA3 GATA6 GATM GBA GCDH GCH1 GCK GCM2 GCSH GFAP GFM1 GLA GLB1 GLDC GLI2 GLI3 GLRA1 GLUD1 GLUL GLYCTK GM2A GMPPB GNAO1 GOSR2 GPHN GPR56 GRIA3 GRIN2A GRN GTPBP3 HADH HAX1 HCCS HCFC1 HCN1 HDAC8 HEPACAM HESX1 HEXA HEXB HGSNAT HLCS HMBS HNRNPU HPD HRAS HSD17B10 HSD17B4 HSPD1 IDH2 IER3IP1 IKBKAP INPP5E INS INSR IQSEC2 ISPD IVD JAM3 JRK KANSL1 KCNA1 KCNC1 KCNH1 KCNH2 KCNH5 KCNJ10 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNV2 KCTD7 KDM5C KDM6A KIAA0226 KIAA1279 KIAA2022 KIF11 KIF2A KIF4A KIF5C KIF7 KMT2D KPTN KRIT1 L1CAM L2HGDH LAMB1 LAMC3 LARGE LBR LGI1 LIAS LMBRD1 LRP2 LRPPRC MBD5 MBTPS2 MCCC1 MECP2 MED17 MEF2C MFSD8 MGAT2 MLC1 MLYCD MMACHC MMADHC MOCS1 MOCS2 MOGS MPDU1 MPDZ MSX2 MTHFR MTR MUT MYO5A NAA10 NALCN NDE1 NDP NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NGLY1 NHLRC1 NIN NIPBL NLGN4X NPC1 NPC2 NPHP1 NRXN1 NSD1 NSDHL NUBPL OCLN OCRL OPA1 OPHN1 OTC OTX2 PAFAH1B1 PAH PANK2 PC PCDH19 PDCD10 PDGFB PDGFRB PDHA1 PDHX PDP1 PDSS2 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PHF6 PHGDH PIGA PIGL PIGM PIGN PIGV PLA2G6 PLCB1 PMM2 PNKP PNPO POGZ POLG POLG2 POMC POMGNT1 POMGNT2 POMT1 POMT2 PPT1 PRF1 PRICKLE1 PRICKLE2 PRRT2 PSAP PSAT1 PTCH1 PTH PTS PURA QARS QDPR RAB18 RAB27A RAB39B RAD21 RAI1 RARS2 RFT1 RNASEH2A RNASEH2B RNASEH2C RNASET2 ROGDI RPIA RRM2B RTTN SAMHD1 SATB2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHA SDHAF1 SEPSECS SERPINI1 SETBP1 SHANK3 SHH SIX3 SLC12A6 SLC13A5 SLC16A1 SLC17A5 SLC19A3 SLC1A3 SLC20A2 SLC25A1 SLC25A12 SLC25A15 SLC25A20 SLC25A22 SLC2A1 SLC35A2 SLC46A1 SLC6A8 SLC9A6 SLC9A9 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMS SNIP1 SPTAN1 SRPX2 ST3GAL3 ST3GAL5 STAMBP STRADA STX1B STXBP1 SUCLA2 SUCLG1 SUMF1 SURF1 SYN1 SYNGAP1 SYP SZT2 TBC1D20 TBC1D24 TBCE TBX1 TCF4 TCTN1 TCTN3 TK2 TMEM138 TMEM216 TMEM231 TMEM237 TMEM5 TPP1 TREM2 TREX1 TRPM6 TSC1 TSC2 TSEN2 TSEN54 TTR TUB8A TUBA1A TUBB2A TUBB2B TUBB3 TUBG1 TYROBP UBE2A UBE3A UPB1 VPS13A VPS53 WDR45 WDR62 WFS1 XK ZBTB18 ZC4H2 ZDHHC9 ZEB2 ZNF423
