EpiPanel^Dx PLUS is a genetic testing panel designed for patients who have experienced seizures, infantile spasms, encephalopathy, or febrile seizures.

Identification of the specific genetic etiology can help patients

• Confirm a clinical diagnosis or genetic syndrome
• Help determine medical management
• Provide information about clinical course of disease
• Family testing for at-risk relatives

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What is the difference between FirstStep^Dx PLUS, EpiPanel^Dx PLUS, and NextStep^Dx PLUS?

FirstStepDx PLUS CMA	EpiPanelDx PLUS	NextStepDx PLUS Exome
Ideal starting point for patients with epilepsy and other neurodevelopental disorders to identify common copy number variants across the genome	Ideal starting point to identify known genetic conditions related to epilepsy	More comprehensive option to identify known conditions related to epilepsy and other neurodevelopmental conditions, as well as new/suspected genes

 

How many genes are covered in EpiPanel^Dx PLUS?

Our comprehensive and curated gene panel for epilepsy covers over 200 genes:

ABCD1 ADSL AKT3 ALDH7A1 AMT ANKRD11 ARG1 ARHGEF9 ARID1B ARL13B ARSA ARSB ASAH1 ASPM ATIC ATP1A2 ATP2A2 ATP6AP2 ATP6V0A2 ATRX AUH B4GALT1 BCKDK BCS1L BOLA3 BRAF BTD C12orf57 CACNA1A CACNA1E CACNA1H CACNB4 CASK CASR CC2D2A CDKL5 CENPJ CEP290 CHD2 CHRNA2 CHRNA4 CHRNB2 CLCN2 CLCN4 CLN3 CLN5 CLN6 CLN8 CNNM2 CNTNAP2 COG8 COL4A1 COQ2 COQ8A COX10 CPA6 CPT2 CRH CSTB CTSA CUL4B DCX DDC DEPDC5 DHFR DLD DOLK DPAGT1 DPM1 DPYD DYNC1H1 DYRK1A EEF1A2 EHMT1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EMX2 EPM2A FH FLNA FOLR1 FOXG1 GABBR2 GABRA1 GABRB3 GABRD GABRG2 GALC GAMT GATM GCH1 GCSH GFAP GLB1 GLDC GLI3 GLRA1 GLRB GLUD1 GNAO1 GNE GNS GOSR2 GRIA3 GRIN1 GRIN2A GRIN2B HECW2 HEXA HEXB HGSNAT HSD17B10 IDS IQSEC2 KANSL1 KCNA1 KCNA2 KCNB1 KCNC1 KCNMA1 KCNQ2 KCNQ3 KCNT1 KDM5C KDM6A KMT2D L2HGDH LAMA2 LGI1 LRPPRC MAP2K1 MBD5 MECP2 MEF2C MFSD8 MGAT2 MLC1 MOCS1 MTOR NAGLU NDUFA1 NDUFA2 NDUFS1 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NEDD4L NEU1 NEXMIF NF1 NGLY1 NHLRC1 NIPBL NPC1 NPC2 NRXN1 NSD1 OFD1 PANK2 PCDH19 PDHA1 PHF6 PHGDH PLA2G6 PLP1 PMM2 PNPO POLG PPP3CA PPT1 PRICKLE1 PRODH PRRT2 PSAP PSPH PURA QDPR RAB39B RAI1 RARS2 RBFOX1 RBFOX3 RELN RFT1 RNASEH2A RNASEH2B RNASEH2C ROGDI SAMHD1 SCN10A SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN8A SCN9A SDHA SERPINI1 SETBP1 SHANK3 SLC17A5 SLC19A3 SLC25A15 SLC2A1 SLC46A1 SLC4A10 SLC6A1 SLC6A5 SLC6A8 SLC9A6 SMARCA2 SMC1A SMC3 SMS ST3GAL5 STX1B STXBP1 SYN1 SYNGAP1 SZT2 TBL1XR1 TBX1 TCF4 TPK1 TPP1 TREX1 TSC1 TSC2 TUBA1A TUBB2B TWNK UBE2A UBE3A UNC80 VPS13A WDR45 ZEB2

**coverage: 96% at 20x


Click here to learn more about the genes on our panel, including inheritance and management guidelines

When will results be available?

We estimate the turnaround time to be about 7 weeks. Because we are in the early launch phase of offering EpiPanel^Dx PLUS, the turnaround time can fluctuate. See test results here.