Genomic Unity® Epilepsy Analysis

NR004

Genomic Unity® Epilepsy Analysis is a diagnostic test designed to identify genetic variants that cause seizures, with or without other symptoms.

Test Description

Genomic Unity® Epilepsy Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on more than 380 seizure-associated genes.

Genomic Unity® Epilepsy Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA), as well as PCR and southern blot tests for short tandem repeat expansions.

Learn More About Epilepsy Testing With Variantyx

When to Order

Order this test when clinical symptoms of seizures are present, with or without other symptoms.

Included Genes

AARS1, ABAT, ABCD1, ACY1, ADAR, ADGRG1, ADGRV1, ADSL, AFF2, AFF3, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, ALG9, ALPL, AMACR, AMT, ANKRD11, AP2M1, 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, CARS2, CASK, CC2D1A, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, COA8, COL4A1, COX15, COX6B1, CSF1R, CSTB, CTC1, CTNNB1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DARS1, DARS2, DCX, DDX3X, DEAF1, DEPDC5, DHFR, DIP2B, DNAJC5, DNM1, DOCK7, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, 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, GLS, GLUL, GNAO1, GNB1, GNE, GOSR2, GPC3, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP3, GUF1, HACE1, HCN1, HCN4, HECW2, HEPACAM, HIBCH, HNRNPU, HPRT1, HSD17B10, HSPB1, HTRA1, IBA57, IER3IP1, IQSEC2, IRF2BPL, ITPA, JMJD1C, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIF1A, KIFBP, KLHL20, KMT2D, L2HGDH, LAMA2, LARGE1, LGI1, LIAS, LMNB1, LMNB2, LRPPRC, MBD5, MCPH1, MECP2, 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, NPRL2, NPRL3, NR2F1, NRXN1, NUBPL, NUS1, OFD1, OPHN1, PAFAH1B1, PAK3, PCDH19, PEX7, PGK1, PHF6, PHGDH, PIGA, PIGN, PIGO, PIGT, PIGV, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPP2R5D, PPT1, PQBP1, PRICKLE2, PRIMA1, PRODH, PRRT2, PSAP, PTS, PURA, PYCR2, QARS1, QDPR, RAB39B, RAB3GAP1, RAI1, RANBP2, RARS1, RELN, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, ROGDI, RORB, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCO1, SDHAF1, SEMA6B, SERAC1, SERPINI1, SETBP1, SETD2, SGCE, SHH, SIX3, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC39A8, SLC46A1, SLC4A10, SLC6A1, SLC6A8, SLC9A6, SMC1A, SMC3, SMS, SNORD118, SOX10, SPATA5, SPTAN1, ST3GAL3, ST3GAL5, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TFCP2, TK2, TPK1, TPP1, TREX1, TSC1, TSC2, TSEN54, TTC19, TUBA1A, TUBA8, TUBB2B, TUBB4A, UBA5, UBE2A, UBE3A, UNC80, VPS13A, VPS13B, WDR26, WDR45, WDR62, WWOX, YY1, ZEB2, ZFYVE26

Included Analyses

  • Sequence analysis of seizure-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of seizure-associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Short tandem repeat (STR) analysis of the AFF2, ARX, CSTB, DIP2B, FMR1 and GLS genes. (Learn more).

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks. Turnaround time begins when samples and all required documents and approvals are received.

Sample Types

CPT Codes

81404, 81405, 81406, 81407, 81419

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.

Methods and Limitations

Genomic Unity® Epilepsy Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.9% sensitivity
99.9% specificity
99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.

Test limitations:
The ALG13, ARX, ATP6AP2, CACNA1A, CERS1, DEAF1, EHMT1, EPM2A, FGD1, GABRD, GRIN2D, HPRT1, IQSEC2, IRF2BPL, KDM6A, LMNB2, MECP2, NOTCH3, NR2F1, PRODH, SLC6A8, SMS, SYN1 and TBX1 genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The PRODH and TUBB2B genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation. Short tandem repeats are not reported in the AFF3, CACNA1A, TBX1, and TCF4 genes.