Neuronal Ceroid Lipofuscinoses (NCL)

Forms and Documents

Test Details

ADSL, ALDH5A1, ATP1A3, ATRX, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DDX3X, DEPDC5, DYRK1A, EEF1A2, EHMT1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNA2, KCNC1, KCNMA1, KCNT1, KCTD7, KDM6A, KIAA2022, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NRXN1, PACS1, PCDH19, PIGN, PNKP, POLG, PPP2R5D, PPT1, PURA, SCN1A, SCN1B, SCN2A, SLC19A3, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, STX1B, SYNGAP1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, 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

542
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

81189x1, 81404x1, 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, 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

CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, FOLR1, GOSR2, KCNC1, KCTD7, MFSD8, NHLRC1, PPT1, SCARB2, TPP1
  • 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

544
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

81189x1, 81403x1, 81404x1, 81479x1
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.

Forms and Documents

Test Details

AAAS, AARS, AARS2, AASS, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABHD12, ABHD5, ACAT2, ACBD6, ACD, ACO2, ACOX1, ACP5, ACTB, ADAR, ADCK3, ADCY5, ADCY6, ADD3, ADGRG1, ADSL, AFF2, AFG3L2, AGA, AGRN, AHDC1, AHI1, AIFM1, AIMP1, AIP, AIPL1, ALAD, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG6, ALK, ALS2, AMACR, AMPD2, ANG, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANOS1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APOA1, APOB, APOPT1, APP, APTX, ARFGEF2, ARG1, ARHGAP31, ARID1B, ARL13B, ARL6, ARL6IP1, ARNT2, ARSA, ARSI, ARX, ASL, ASNS, ASPM, ASS1, ATCAY, ATG5, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP5A1, ATP5E, ATP6AP2, ATP7A, ATP7B, ATP8A2, ATPAF1, ATPAF2, ATRX, AUH, B3GALNT2, B3GALT6, B4GALNT1, B4GAT1, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCOR, BCS1L, BICD2, BRAT1, BSCL2, BTD, BTK, C10orf2, C12ORF65, C19orf12, C5orf42, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNB4, CACNG2, CAMTA1, CAPN1, CARS2, CASK, CAV1, CBS, CC2D1A, CC2D2A, CCDC88C, CCT5, CDH15, CDK5RAP2, CDK6, CDKL5, CECR1, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHAMP1, CHAT, CHCHD10, CHD2, CHD7, CHL1, CHMP1A, CHMP2B, CISD2, CIZ1, CKAP2L, CLCN2, CLIC2, CLIP1, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNTN4, CNTNAP1, COA3, COASY, COG4, COG5, COL18A1, COL4A1, COL4A2, COL6A3, COQ2, COX10, COX14, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT1C, CRADD, CRB1, CRBN, CREBBP, CRX, CSF1R, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTLA4, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYC1, CYP27A1, CYP2U1, CYP7B1, DAG1, DAO, DARS, DARS2, DBT, DCAF17, DCTN1, DCX, DDC, DDHD1, DDHD2, DDX3X, DEAF1, DHCR24, DHFR, DKC1, DLAT, DLD, DLGAP4, DLL4, DMXL2, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNM2, DNMT1, DOCK6, DOCK8, DPM1, DPYD, DPYS, DRD2, DUSP6, DYNC1H1, DYRK1A, DYSF, EARS2, EBF3, ECHS1, EDC3, EDN3, EDNRB, EEF2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EML1, EMX2, ENPP1, ENTPD1, EOGT, EPB41L1, EPB41L4A, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ETHE1, EXOSC3, EXOSC8, EXT2, EZH2, FA2H, FAAH, FAM134B, FAR1, FARS2, FASTKD2, FBXL4, FBXO31, FBXO7, FEZF1, FGD4, FGF14, FGF17, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FLRT1, FLRT3, FLVCR1, FMN2, FOXG1, FOXP1, FOXP3, FOXRED1, FTL, FUCA1 , FUS, FUZ, FXN, GABRA1, GABRB2, GABRD, GABRG2, GAD1, GALC, GAMT, GAN, GATAD2B, GBA, GBA2, GBE1, GCDH, GCH1, GDF3, GDF6, GEMIN4, GEMIN5, GFAP, GFM1, GIGYF2, GJA1, GJB1, GJB2, GJB6, GJC2, GLB1, GLI2, GLRA1, GLRX5, GLYCTK, GMPPA, GMPPB, GNAL, GNAO1, GNAQ, GNRH1, GNRHR, GOSR2, GPI, GPR101, GPR88, GRID2, GRIK2, GRIN1, GRIN2B, GRM1, GRN, GSS, GUCY2D, HACE1, HARS, HARS2, HCFC1, HCN1, HDAC8, HEPACAM, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HIC1, HK1, HLA-DPB1, HMBS, HMGCS2, HNRNPA1, HNRNPA2B1, HPCA, HPGD, HPRT1, HS6ST1, HSD17B10, HSD17B4, HSPD1, HSPG2, HTRA2, IBA57, IDH2, IDUA, IFIH1, IFRD1, IFT140, IFT172, IFT27, IL10, IL12A, IL17RD, IL23R, IL6, IMPDH1, INPP5E, IQCB1, IQSEC2, ISCA2, ISPD, ITM2B, ITPR1, JAM3, KANK1, KAT6A, KATNB1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNB2, KCNC3, KCND3, KCNJ10, KCNJ13, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA0586, KIAA2022, KIF1A, KIF1C, KIF2A, KIF5A, KIF5C, KIRREL3, KISS1, KISS1R, KLC2, KLC4, L1CAM, L2HGDH, LAMA1, LAMB2, LARS, LARS2, LCA5, LDLR, LHX4, LIAS, LIPT1, LMBRD1, LMNB1, LMNB2, LRAT, LRPPRC, LRRK2, LRSAM1, LYRM7, LZTFL1, MAG, MAN1B1, MAN2B1, MAPT, MARS, MARS2, MAT1A, MATR3, MBD5, MCOLN1, MCPH1, MECP2, MED13L, MED17, MED23, MED25, MEF2C, MEFV, MEOX1, METTL23, MFN2, MFSD2A, MFSD8, MICU1, MKKS, MKS1, MLC1, MLLT3, MMADHC, MOCS1, MOCS2, MPDU1, MPV17, MPZ, MR1, MRE11A, MRPS22, MTFMT, MTO1, MTPAP, MTTP, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NADK2, NAGA, NAGLU, NAGPA, NALCN, NAT8L, NDE1, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEFH, NEFL, NFU1, NGLY1, NHP2, NIPA1, NKAIN2, NKX2-1, NKX6-2, NME1, NMNAT1, NOD2, NOP10, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NSD1, NSMF, NSUN2, NT5C2, NTNG1, NUBPL, NUP62, OCLN, OPA1, OPA3, OPHN1, OPTN, OTC, OTUD4, OTX2, PACRG, PAFAH1B1, PAFAH1B3, PAH, PAK3, PANK2, PARK2, PARK7, PARN, PAX3, PAX6, PCCA, PCCB, PCDH19, PCLO, PCNA, PDC, PDE10A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PDP1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP1, PGK1, PGM3, PHC1, PHGDH, PHOX2B, PHYH, PIGA, PIGN, PIGQ, PIK3R5, PINK1, PLA2G6, PLCB1, PLEKHG2, PLEKHG4, PLP1, PLXND1, PMM2, PMP22, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPT1, POLA1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POU1F1, PPARGC1A, PPM1K, PPT1, PQBP1, PRF1, PRICKLE1, PRKCG, PRKRA, PRNP, PROK2, PROKR2, PROP1, PRPH, PRPS1, PRRT2, PRSS12, PRTN3, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTCH2, PTCHD1, PTPN22, PTRH2, PTS, PURA, QARS, QDPR, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD50, RARS2, RASA1, RAX, RBFOX1, RBM10, RBPJ, RD3, RDH12, REEP1, REEP2, RELN, REV3L, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF168, RNF170, RNF216, ROGDI, RPE65, RPGRIP1, RPGRIP1L, RPIA, RRM2B, RTEL1, RTN2, RTN4IP1, RTTN, SACS, SAMD9L, SAMHD1, SASS6, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEMA3A, SEPSECS, SERAC1, SETD2, SETX, SGCE, SHANK3, SHH, SIGMAR1, SIK1, SIL1, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5 , SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A4, SLC25A46, SLC2A1, SLC2A3, SLC30A10, SLC33A1, SLC39A14, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC9A1, SLC9A6, SMAD4, SMARCA4, SMARCB1, SMC1A, SMPD1, SNAP25, SNCA, SNX14, SOD1, SORL1, SOST, SOX10, SOX2, SOX3, SOX6, SPAST, SPATA5, SPATA7, SPG11, SPG20, SPG21, SPG7, SPR, SPRY4, SPTAN1, SPTBN2, SQSTM1, SRD5A3, ST3GAL3, ST3GAL5, STAMBP, STAT4, STIL, STK11, STRADA, STUB1, STX11, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNGAP1, SYNJ1, SYT14, SYT2, TAC3, TACO1, TACR3, TAF1, TAF2, TARDBP, TBC1D20, TBC1D24, TBK1, TBX18, TCF4, TCN2, TCTN1, TCTN2, TDP1, TDP2, TEAD1, TECPR2, TECR, TERT, TFG, TGM6, TH, THAP1, THG1L, TIMM8A, TINF2, TK2, TLR4, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TOP2A, TOR1A, TOR1AIP1, TPI1, TPK1, TPM2, TPM3, TPP1, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM32, TRNT1, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTF1, TTPA, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TULP1, TUSC3, TYMP, TYROBP, UBA5, UBE3A, UBQLN2, UBTF, UCHL1, UNC13A, UNC13D, UNC80, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, USB1, USP8, VAMP1, VAPB, VARS2, VCP, VLDLR, VPS13A, VPS13B, VPS16, VPS35, VPS37A, VPS53, VRK1, VWA3B, VWF, WDPCP, WDR11, WDR45, WDR48, WDR62, WDR73, WDR81, WFS1, WNK1, WRAP53, WWOX, XPA, XPR1, XRCC1, XRCC4, YWHAE, ZC3H14, ZC4H2, ZFR, ZFYVE26, ZFYVE27, ZNF335, ZNF423, ZNF592
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with ataxia

Ordering

J762
6 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

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

Billing

81286x1, 81185x1, 81403x1, 81404x1, 81405x2, 81406x4, 81407x1, 81408x2
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

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