What Is the EpiPanelDx PLUS Genetic Test?

EpiPanelDx PLUS is a genetic test that performs sequencing and deletion/duplication analysis of 244 genes associated with syndromic and non-syndromic causes of:

  • Seizures
  • Infantile spasms
  • Encephalopathy
  • Febrile seizures

This panel is available as a proband-only test, or as a trio or duo, meaning that family members can submit samples along with the patient for segregation analysis.
Accepted Specimens
  • Saliva via a buccal swab
  • Whole blood
  • Extracted DNA

Clinical Support for EpiPanelDx PLUS Testing

Bionano Laboratories offers unlimited clinical support to patients and providers through access to our genetic counselors who can discuss testing capabilities, strategy, informed consent, and results.

Providers can call our genetic counselors at

801.931.6191

Our comprehensive and curated gene panel assesses over 200 genes. These genes were selected from medical literature based on their primary association with epilepsy. Genetic testing results may confirm a clinical diagnosis, help clinicians and families make informed healthcare decisions, negate the need for additional diagnostic tests, and inform family planning and genetic counseling.

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

DNA is barcoded and enriched for the coding exons of targeted genes known to be associated with epilepsy using hybrid capture technology. Prepared DNA libraries are then sequenced using next-generation sequencing technology. All genes are evaluated for large deletions and/or duplications.

Who should have this test performed?

Individuals who have a diagnosis of epilepsy or have experienced seizures, febrile seizures, infantile spasms, or encephalopathy are relevant candidates for this test. Identifying a specific genetic etiology of these symptoms may help determine more appropriate and tailored medical management, provide information on the course of the disease, and demonstrate a need to test at-risk relatives.

What is trio testing?

This test can be performed for a single individual or samples can also be submitted for one or two relatives (preferably biological parents). When both parental samples are available to analyze alongside the primary individual, we call this “trio testing.” Trio testing has several advantages, including a slightly increased diagnostic rate for the patient and automatic inheritance information to assist with clinical interpretation and the family’s recurrence risk estimations. Importantly, only the patient receives a report as the primary purpose of the parental samples is to assist in the interpretation of their child’s results.

What if this test doesn’t find a diagnosis?

There are many different types of genetic tests, and EpiPanelDx PLUS is just one. Each genetic test can look at the genome in its own way, and no single genetic test can diagnose all currently known genetic conditions. For this reason, a non-diagnostic EpiPanelDx PLUS test alone is not sufficient to eliminate a genetic condition as the cause of a patient’s symptoms.

Other types of tests, such as chromosomal microarray analysis or whole exome sequencing, may also be considered especially for individuals with epilepsy. Additionally, an evaluation or consultation by a medical geneticist (physician who specializes in genetic conditions) or genetic counselor could be useful to help determine a follow-up testing strategy.