Genomic Unity® Epilepsy Analysis

Epilepsy is not a single disorder, but a group of neurological disorders which clinically present with diverse phenotypes and etiologies. Abnormal brain activity results in seizures, but the signs and symptoms of seizures are not always easily recognizable, particularly in young children. They may include uncontrolled twitching of arms and legs, periods of staring into space or loss of attention, periods of momentary confusion, loss of consciousness or awareness, sudden feelings of fear or anxiety and complaints of unusual sensations (sights, sounds, tastes, smells, feelings).

Genomic Unity® Epilepsy Analysis is an effective test for the genetic cause of epilepsy in patients with clinical symptoms consistent with the three general classes of epilepsies:

As well as their specific syndromes and epilepsies associated or co-morbid with neurodevelopmental conditions including intellectual disability.

Genomic Unity® Epilepsy Analysis also tests for metabolic conditions that present with seizures.

Order this test when the patient presents with seizures and you'd like the option to reflex up to Genomic Unity® Whole Genome Analysis.

  • Sequencing analysis of seizure associated genes
  • Del/dup analysis of seizure associated genes
  • Early-onset intellectual disability disorder STR analysis: AFF2, AFF3, DIP2B, FMR1
  • Additional STR analysis: CSTB

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

AARS1, ABAT, ABCD1, ACY1, ADAR, ADGRG1, ADSL, AFF2, AFF3, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, ALG9, ALPL, AMACR, AMT, ANKRD11, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARG1, ARHGEF9, ARSA, ARV1, ARX, ASAH1, ASNS, ASPA, ASPM, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATRX, BCKDK, BRAT1, BTD, C12ORF57, CACNA1A, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CASR, CC2D1A, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COA8, COL4A1, COX15, COX6B1, CP2, CPA6, CSF1R, CSTB, CTC1, CTFD, CTNNB1, CTSF, CUL4B, CYP27A1, D2HGDH, DARS1, DARS2, DCX, DDX3X, DEAF1, DEPDC5, DHFR, DIP2B, DNAJC5, DNM1, DOCK7, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFDH, ETHE1, FA2H, FAM126A, FAR1, FARS2, FGD1, FGF12, FGFR3, FH, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, FOXRED1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GCSH, GFAP, GFM1, GJC2, GLB1, GLDC, GLRA1, GNAO (GNOA1), GNB1, GNE, GOSR2, GPC3, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, GTPBP3, GUF1, HACE1, HCN1, HCN4, HECW2, HEPACAM, HIBCH, HNRNPU, HPRT1, HSD17B10, HSPB1, HTRA1, HTT, IBA57, IER3IP1, IQSEC2, ITPA, JMJD1C, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KDM5C, KDM6A, KIF1A, KIFBP, KMT2D, L2HGDH, LAMA2, LARGE1, LGI1, LIAS, LMNB1, LMNB2, LRPPRC, MAGI2, MBD5, MCPH1, MCPH2, MED12, MEF2C, MFSD8, MLC1, MOCS1, MRPL44, MTFMT, MTOR, NACC1, NALCN, NDE1, NDUFA1, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEXMIF, NFU1, NGLY1, NHLRC1, NIPBL, NOTCH3, NPRL3, NR2F1, NRXN1, NUBPL, OFD1, OPHN1, PAFAH1B1, PAK3, PCDH19, PEX7, PGK1, PHF6, PHGDH, PIGN, PIGO, PIGT, PIGV, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRIMA1, PRODH, PRRT2, PSAP, PTS, PURA, PYCR2, QARS1, QDPR, RAB39B, RAB3GAP1, RAI1, RARS1, RELN, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, ROGDI, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SETBP1, SETD2, SGCE, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC39A8, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SMC3, SMS, SNORD118, SOX10, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TPK1, TPP1, TREX1, TSC1, TSC2, TSEN54, TTC19, TUBA1A, TUBA8, TUBB2B, TUBB4A, UBA5, UBE2A, UBE3A, UNC80, VPS13A, VPS13B, WDR26, WDR45, WDR62, WWOX, YY1, ZEB2, ZFYVE26

SNVs and Indels up to 50bp
99.8% sensitivity
99.7% positive predictive value

Note that the PRODH and SIK1 genes are not fully covered by this test, therefore pathogenic variants may not be detected in these genes.

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.

81171, 81185, 81188, 81189, 81243x1, 81403, 81404, 81405, 81406, 81407, 81408

The CPT codes provided 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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.