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:
Genetic generalized epilepsies (GGE)
Epileptic encephalopathy (EE)
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® Exome Plus 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
Reflex to Genomic Unity® Exome Plus Analysis
AARS1, ABAT, ABCD1, ACY1, ADAR, ADGRG1, ADSL, AFF2, AFF3, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A2, ALDH7A2, 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
99.7% 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.
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.
81171x1, 81185x1, 81188x1, 81189x1, 81243x1, 81403x3, 81404x13, 81405x29, 81406x24, 81407x7, 81408x3
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.