West Syndrome

X-linked early infantile epileptic encephalopathy (EIEE2) is characterized by intractable early-onset tonic seizures or spasms. This disorder is genetically heterogeneous, with up to a fifth of cases resulting from mutations in the CDKL5 gene. The majority of patients with CDKL5 mutations are female. Females with CDKL5 mutations typically present with drug-resistant seizures that begin before 6 months of age, and more than 90% show a phenotype before the end of the first year. Up to 70% of affected females develop infantile spasms (IS), often in conjunction with hypsarrythmia, and in some cases, they are diagnosed with West syndrome.4,7,11 Some females also present with autism, hypotonia, and developmental delay.1-5 Some of these patients have features reminiscent of Rett syndrome, including breathing dysfunction, deceleration of head growth and stereotypic hand movements. However, unlike those with Rett syndrome, patients with CDKL5 mutations do not demonstrate developmental regression with loss of language and motor skills after normal development in the first year of life. An Angelman syndrome-like phenotype has also been observed in some female patients.1,2,11,12 Male individuals with a CDKL5 mutation typically also develop epileptic encephalopathy characterized by severe intractable seizures and intellectual disability in the absence of other signs.

Tests Available

Forms and Documents

Test Details

ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NR2F1, NRXN1, PACS1, PCDH19, PIGA, PIGN, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRRT2, PURA, QARS, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Ordering

523
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81403x1, 81189x1, 81404x4, 81405x2, 81406x2, 81407x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA7, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DDX3X, DEPDC5, DNM1, DYRK1A, EEF1A2, EHMT1, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NPRL3, NR2F1, NRXN1, PACS1, PCDH19, PIGA, PIGN, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRRT2, PURA, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Ordering

541
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81185x1, 81404x2, 81405x2, 81406x2, 81407x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

ALDH7A1, ARX, BRAT1, CDKL5, FOLR1, GLDC, KCNQ2, KCNQ3, KCNT1, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC19A3, SLC2A1, SLC6A8, SPTAN1, STXBP1, TPP1, TSC1, TSC2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Ordering

814
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x2, 81405x2, 81406x2, 81407x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

AAAS, AARS, AARS2, AASS, ABAT, ABCA5, ABCA7, ABCB7, ABCC8, ABCC9, ABCD1, ABCD3, ACAD9, ACADM, ACADS, ACADSB, ACMSD, ACO2, ACOT7, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACTL6B, ACVR1, ACVRL1, ACY1, ADAM22, ADAR, ADAT3, ADCK3, ADCK4, ADD3, ADGRG1, ADK, ADNP, ADRA2B, ADSL, AFF2, AFG3L2, AGA, AGGF1, AGK, AGTR2, AHI1, AHSG, AIFM1, AIMP1, AIMP2, AKT1, AKT2, AKT3, ALAD, ALDH18A1, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALX4, AMACR, AMER1, AMPD2, AMT, ANK2, ANK3, ANKH, ANKLE2, ANKRD11, ANO10, ANO3, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOA1BP, APOPT1, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF15, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARMC9, ARNT2, ARSA, ARV1, ARVCF, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASTN1, ASTN2, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATIC, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP2B3, ATP5A1, ATP5E, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATPAF2, ATR, ATRIP, ATRX, ATXN10, AUH, AUTS2, AVPR2, B3GALNT2, B3GALTL, B4GALT1, B4GAT1, B9D1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCR, BCS1L, BDNF, BMP2, BMP4, BOLA3, BRAF, BRAT1, BRCC3, BRD4, BRWD3, BSCL2, BSN, BTD, BUB1, BUB1B, BUB3, C10orf2, C12ORF57, C12ORF65, C5orf42, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CACNG2, CAD, CALM1, CALM2, CALM3, CAMK2A, CAMK2B, CAMKMT, CAMTA1, CARD9, CARS2, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC88A, CCDC88C, CCM2, CCND2, CCR1, CD96, CDC42, CDH11, CDH15, CDK10, CDK5RAP2, CDK6, CDKL5, CDON, CECR1, CELF4, CENPE, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP57, CEP63, CERS1, CHAT, CHD2, CHD4, CHD7, CHD8, CHKB, CHL1, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CIT, CKAP2L, CLCF1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLDN16, CLEC7A, CLIC2, CLIP1, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTN4, CNTNAP2, COA3, COA5, COA7, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL13A1, COL18A1, COL25A1, COL4A1, COL4A2, COL4A3BP, COMT, COPB2, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX7B, COX8A, CPA6, CPLX1, CPOX, CPS1, CPT1A, CPT2, CRADD, CRB2, CRBN, CREBBP, CRH, CRHR1, CRKL, CRLF1, CSF1R, CSMD1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTLA4, CTNNB1, CTNND2, CTR9, CTSA, CTSD, CTSF, CUL4B, CXCR4, CYC1, CYFIP2, CYP27A1, CYP27B1, CYP2C9, CYP2R1, CYP2U1, D2HGDH, DAG1, DARS2, DBH, DBT, DCC, DCHS1, DCX, DDC, DDOST, DDX3X, DEAF1, DENND5A, DEPDC5, DGKD, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHX30, DIAPH1, DIP2B, DIS3L2, DISP1, DLAT, DLD, DLG1, DLG2, DLG3, DLG4, DLGAP2, DLL1, DLL4, DMBX1, DMD, DNA2, DNAJC19, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DUSP6, DYNC1H1, DYRK1A, EARS2, EBP, ECE1, ECHS1, ECM1, EDC3, EEF1A2, EFHC1, EFHC2, EFTUD2, EGF, EHHADH, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, ELMO2, ELOVL4, ELP4, EMC1, EMG1, EML1, EMX2, ENG, EOGT, EP300, EPB41L1, EPG5, EPM2A, EPT1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC6B, EXOSC3, EXOSC8, EXT2, EXTL3, EZH2, FA2H, FADD, FAM111A, FAM126A, FAM58A, FAR1, FARS2, FAS, FASN, FASTKD2, FAT4, FBP1, FBXL4, FBXO28, FBXO31, FDXR, FGD1, FGF12, FGF13, FGF17, FGF23, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FHL1, FIG4, FKRP, FKTN, FLI1, FLII, FLNA, FLRT3, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXH1, FOXP1, FOXRED1, FRG1, FRMPD4, FRRS1L, FTO, FTSJ1, FUCA1 , FXYD2, G6PC, GAA, GABBR2, GABRA1, GABRA3, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG2, GABRG3, GABRQ, GABRR1, GABRR3, GAD1, GAL, GALC, GAMT, GAS1, GATA3, GATA6, GATAD2B, GATM, GBA, GCDH, GCH1, GCM2, GCSH, GDF2, GDI1, GDNF, GFAP, GFER, GFM1, GFM2, GJA1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNA11, GNAI1, GNAO1, GNAQ, GNAS, GNB1, GNB5, GNE, GNPTAB, GNPTG, GNRH1, GNS, GOLGA2, GOSR2, GP1BB, GPAA1, GPC3, GPC4, GPHN, GPR161, GPSM2, GPT2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM7, GRM8, GRN, GSPT2, GSS, GTPBP3, GUCY1A3, GUF1, GUSB, GYS1, GYS2, HACE1, HADH, HARS2, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIC1, HIP1, HIRA, HIVEP2, HK1, HLA-B, HLA-DPB1, HLCS, HMBS, HMGCL, HMGCS2, HNRNPH2, HNRNPL, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HSPD1, HTR1A, HUWE1, HYLS1, IARS, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT140, IL10, IL12A, IL12B, IL12RB2, IL17F, IL17RA, IL1RAPL1, IL23R, IL27RA, IMPAD1, INO80, INPP4A, INPP5E, INPP5K, INS, INSR, INVS, IQCB1, IQSEC1, IQSEC2, IRF2BPL, ISCU, ISPD, ITGB6, ITPA, ITPR1, IVD, JAM3, JMJD1C, JRK, KANK1, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KCNA1, KCNA2, KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ13, KCNJ2, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM2B, KDM5B, KDM5C, KDM6A, KIAA0226, KIAA0556, KIAA0586, KIAA0753, KIAA1033, KIAA1279, KIAA1715, KIAA2022, KIF11, KIF1A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIRREL3, KISS1, KLF13, KLHL15, KLHL7, KLLN, KLRC4, KMT2A, KMT2D, KPNA7, KPTN, KRAS, KRIT1, KRT83, L1CAM, L2HGDH, LAGE3, LAMA2, LAMB1, LAMC3, LARGE, LARS, LARS2, LAS1L, LBR, LETM1, LGI1, LGI4, LHX1, LIAS, LIG4, LIPT1, LMAN2L, LMBRD1, LMNB2, LONP1, LRFN2, LRP2, LRPPRC, LYRM7, LYST, MAF, MAFB, MAGEL2, MAGI2, MAGT1, MAN1B1, MANBA, MAOA, MAP2K1, MAP2K2, MAPK1, MAPK10, MAPK3, MAPRE2, MAPT, MARS2, MATN4, MBD5, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM4, MCOLN1, MCPH1, MCTP2, MDH2, ME2, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEFV, MEGF10, MEIS2, METTL23, MFF, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICAL1, MID2, MIPEP, MKS1, MLC1, MLLT3, MLX, MLYCD, MMAA, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPDZ, MPP7, MPV17, MRAP, MRI1, MRPL44, MRPS16, MRPS22, MSX2, MTFMT, MTM1, MTO1, MTOR, MTPAP, MTR, MTRR, MUT, MVK, MYH1, MYH3, MYO5A, MYO7B, MYO9A, MYOCD, MYT1L, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT8L, NBAS, NBEA, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEK9, NELFA, NEU1, NEUROD2, NF1, NFIA, NFIX, NFU1, NGLY1, NHEJ1, NHLRC1, NID1, NIN, NIPA1, NIPA2, NIPBL, NLGN1, NLGN4X, NMNAT1, NNT, NODAL, NOL3, NONO, NOTCH3, NPAP1, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPRL2, NPRL3, NR2F1, NRAS, NRXN1, NRXN3, NSD1, NSDHL, NSUN2, NTNG1, NTRK2, NUBPL, NUP107, NUS1, OCLN, OCRL, OFD1, OGT, OPA1, OPA3, OPHN1, OSGEP, OTC, OTUD6B, OTX2, PACS1, PACS2, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PARS2, PAX2, PAX6, PC, PCCA, PCCB, PCDH12, PCDH19, PCDH7, PCDHB4, PCK1, PCLO, PCNT, PDCD10, PDE10A, PDE4D, PDE6D, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHF21A, PHF6, PHGDH, PHOX2B, PI4KA, PIBF1, PIEZO2, PIGA, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PIGY, PIK3AP1, PIK3CA, PIK3R2, PLA2G6, PLAA, PLAGL1, PLCB1, PLEKHG2, PLK4, PLP1, PLXND1, PMM2, PMPCA, PNKD, PNKP, PNPLA8, PNPO, PNPT1, PODXL, POGZ, POLA1, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPM1B, PPM1K, PPOX, PPP1R15B, PPP1R3C, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRDX1, PREPL, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKAR1A, PRKDC, PRMT7, PRODH, PROP1, PROSC, PRPS1, PRRT2, PRSS12, PRTN3, PRUNE, PSAP, PSAT1, PSPH, PTCH1, PTCHD1, PTEN, PTF1A, PTH, PTPN11, PTPN22, PTPN23, PTPRD, PTS, PUM1, PURA, PUS1, PVRL1, PYCR2, QARS, QDPR, RAB11A, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAF1, RAI1, RANBP2, RAP1A, RAP1B, RARS2, RBBP8, RBFOX1, RBFOX3, RBM10, RBM8A, RBPJ, RECQL4, REEP1, RELN, RERE, RFT1, RHOBTB2, RILP, RLBP1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, ROBO1, ROBO3, ROGDI, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RREB1, RRM2B, RTN4IP1, RTTN, RYR2, RYR3, SACS, SAMD9, SAMHD1, SARS2, SASS6, SATB2, SC5D, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN3B, SCN7A, SCN8A, SCN9A, SCNM1, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SEC24C, SEC24D, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SGCE, SGSH, SH2B1, SHANK1, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIN3A, SIX3, SKI, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5 , SLC18A2, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A10, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC26A1, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC37A4, SLC39A8, SLC45A1, SLC46A1, SLC4A10, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A5, SLC6A8, SLC9A1, SLC9A6, SLC9A9, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG9, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SNRPN, SNX10, SNX14, SNX27, SON, SOS1, SOX10, SOX11, SOX17, SOX2, SOX3, SOX5, SPAST, SPATA5, SPG11, SPG7, SPINK5, SPR, SPRED1, SPRY4, SPTAN1, SQSTM1, SRCAP, SRD5A3, SRPX2, SSR4, SSTR5, ST3GAL3, ST3GAL5, ST5, ST7, ST8SIA2, STAMBP, STAR, STARD9, STX11, STX16, STX1B, STXBP1, STXBP2, STYXL1, SUCLA2, SUCLG1, SUCO, SUFU, SUMF1, SUOX, SURF1, SV2A, SYN1, SYN2, SYNGAP1, SYNJ1, SYP, SYT14, SYT2, SZT2, TAC3, TACO1, TACR3, TAF1, TANGO2, TAT, TAZ, TBC1D20, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX18, TBX19, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDGF1, TDP2, TECPR2, TECR, TFAP2A, TGDS, TGIF1, TH, THAP11, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM106B, TMEM126A, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TMLHE, TMTC3, TOE1, TP53RK, TPK1, TPP1, TPRKB, TRAF3IP1, TRAF3IP2, TRAPPC11, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM8, TRIO, TRIP13, TRIT1, TRMT10A, TRNT1, TRPM6, TRPS1, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSPAN7, TTC19, TUBA1A, TUBA3E, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TXN2, TYMP, TYROBP, UBA5, UBAC2, UBB, UBE2A, UBE3A, UBTF, UCP2, UFD1L, UGDH, UMPS, UNC13D, UNC80, UPB1, UPF3B, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, USP18, USP9X, VANGL1, VARS, VARS2, VCP, VDR, VLDLR, VPS11, VPS13A, VPS13B, VPS53, VRK1, WAC, WARS2, WDR19, WDR26, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHSC1, WWOX, XK, XPA, XPC, XPNPEP3, XPR1, XRCC1, YAP1, YARS2, YWHAE, YWHAG, ZBTB18, ZBTB20, ZC3H14, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZFYVE26, ZIC2, ZMYND11, ZMYND12, ZNF335, ZNF41, ZNF423, ZNF592, ZNF674, ZNF711, ZNF81, ZNHIT3, ZSWIM6
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies

Ordering

921
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x4, 81405x2, 81406x2, 81407x1, 81408x2, 81302x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Pong et al. (2011) Pediatric Neurology 44 (5):317-27 (PMID: 21481738)
  2. Dyment et al. (2014) Clinical Genetics : (PMID: 25046240)
  3. Michaud et al. (2014) Human Molecular Genetics 23 (18):4846-58 (PMID: 24781210)
  4. Veeramah et al. (2013) Epilepsia 54 (7):1270-81 (PMID: 23647072)
  5. Allen et al. (2013) Nature 501 (7466):217-21 (PMID: 23934111)
  6. EuroEPINOMICS-RES et al. American Journal Of Human Genetics 95 (4):360-370 (PMID: 25262651)
  7. Lee et al. (2014) Jama 312 (18):1880-7 (PMID: 25326637)
  8. McKnight D, Retterer K, Juusola J, Brandt T, Richard G, and Suchy S, Genetic Testing Strategies for Patients with Epilepsy and Neurodevelopmental Disorders; (Abstract #562). Presented at the 2015 ACMG Annual Clinical Genetics Meeting, March 27, 2015, Salt

Forms and Documents

Test Details

ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARID1B, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NR2F1, NRXN1, OPHN1, PACS1, PCDH19, PHF6, PIGA, PIGN, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRICKLE1, PRRT2, PURA, QARS, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies

Ordering

953
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81304x1, 81403x1, 81405x3, 81406x2
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.