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:

ADSL	BOLA3	CLN6	DPM1	GAMT	IQSEC2	MGAT2	NSD1	RBFOX3	SLC19A3	TPP1
AKT3	BRAF	CLN8	DPYD	GCSH	IRF2BPL	MLC1	OFD1	RELN	SLC25A15	TREX1
ANKRD11	BTD	CNNM2	DYNC1H1	GFAP	KANSL1	MTOR	PANK2	RFT1	SLC2A1	TSC1
ARG1	C12orf57	CNTNAP2	DYRK1A	GLB1	KCNA1	NAGLU	PCDH19	RNASEH2A	SLC46A1	TSC2
ARHGEF9	CACNA1A	COG8	EEF1A2	GLDC	KCNB1	NDUFA1	PDHA1	RNASEH2B	SLC4A10	TUBA1A
ARID1B	CACNA1H	COL4A1	EHMT1	GLI3	KCNC1	NDUFA2	PHF6	RNASEH2C	SLC6A1	TUBB2B
ARL13B	CACNB4	COQ2	EIF2B1	GLUD1	KCNMA1	NDUFS1	PLA2G6	ROGDI	SLC6A8	TWNK
ARSA	CASK	COQ8A	EIF2B2	GNAO1	KCNQ2	NDUFS3	PLP1	SAMHD1	SLC9A6	UBE2A
ARSB	CASR	COX10	EIF2B3	GNE	KCNT1	NDUFS4	PMM2	SCN10A	SMARCA2	UBE3A
ASAH1	CC2D2A	CPA6	EIF2B4	GNS	KDM5C	NDUFS7	POLG	SCN1A	SMC1A	UNC80
ASPM	CDKL5	CPT2	EIF2B5	GOSR2	KDM6A	NDUFS8	PPP3CA	SCN1B	SMC3	VPS13A
ATIC	CENPJ	CRH	EMX2	GRIA3	KMT2D	NDUFV1	PPT1	SCN2A	SMS	WDR45
ATP1A2	CEP290	CSTB	EPM2A	GRIN1	L2HGDH	NEDD4L	PRICKLE1	SCN3A	ST3GAL5	ZEB2
ATP2A2	CHD2	CTSA	FH	GRIN2A	LAMA2	NEU1	PRODH	SCN4A	STX1B
ATP6AP2	CHRNA2	CUL4B	FLNA	GRIN2B	LGI1	NEXMIF	PSAP	SCN5A	STXBP1
ATP6V0A2	CHRNA4	DCX	FOLR1	HECW2	LRPPRC	NF1	PURA	SCN9A	SYN1
ATRX	CHRNB2	DEPDC5	GABRA1	HEXA	MAP2K1	NGLY1	QDPR	SDHA	SYNGAP1
AUH	CLCN2	DHFR	GABRB3	HEXB	MBD5	NHLRC1	RAB39B	SERPINI1	SZT2
B4GALT1	CLCN4	DLD	GABRD	HGSNAT	MECP2	NIPBL	RAI1	SETBP1	TBL1XR1
BCKDK	CLN3	DOLK	GABRG2	HSD17B10	MEF2C	NPC1	RARS2	SHANK3	TBX1
BCS1L	CLN5	DPAGT1	GALC	IDS	MFSD8	NPC2	RBFOX1	SLC17A5	TCF4

**coverage: 96% at 20x

When will results be available?

We estimate the turnaround time to be about 5-7 weeks. Because we are in the early launch phase of offering EpiPanel^Dx PLUS, the turnaround time can fluctuate. See test results here.