Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies

Clinical Use

Use

This test is useful for establishing a diagnosis of epilepsy or seizure disorders associated with known causal genes. It aids in identifying disease-causing variants in genes linked to inherited epilepsy or seizure disorders, enabling predictive testing for at-risk family members. Additionally, identifying a specific underlying etiology for epilepsy can influence patient treatment and management, such as directing appropriate use of antiepileptic drugs and other treatment modalities. The test involves next-generation sequencing to detect single nucleotide and copy number variants in 319 genes associated with epilepsy and a PCR-based assay for detecting CSTB dodecamer repeat expansions.

Special Instructions

Not provided.

Limitations

Next-generation sequencing may not detect all genomic variants, and false negatives or positives might occur. Certain regions of genes might not be effectively evaluated due to technical limitations like regions of homology, high GC content, and repetitive sequences. The test is validated for deletions up to 75 bp and insertions up to 47 bp but may be less reliable for larger delins. Not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. Additional testing might be necessary for somatic variant interpretation.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (315 genes)

ABATACO2ACY1ADARB1ADGRG1ADSLAFG3L2AIFM1AKT2ALDH3A2ALDH5A1ALDH7A1ALG13AMTAP2M1ARFGEF2ARHGEF9ARXASAH1ASNSATN1ATP1A2ATP1A3ATRXBCKDKBCS1LBOLA3BRAT1C12orf57CACNA1ACACNA1ECACNA2D2CADCARS2CASKCCM2CDKL5CHD2CHRNA2CHRNA4CHRNB2CLCN4CLN3CLN5CLN6CLN8CNTNAP2COA8COQ2COQ4COQ6COQ8ACOQ9COX10COX15CPT2CSF1RCSTBCTSDCTSFCUL4BD2HGDHDCXDDCDDX3XDEPDC5DHFRDIAPH1DLDDMXL2DNAJC5DNM1DNM1LDOCK7DYRK1AEARS2EEF1A2EHMT1EIF2AK2EPM2AETHE1FARS2FASTKD2FBP1FBXL4FHFKRPFKTNFLNAFOLR1FOXG1FOXRED1FRRS1LGABBR2GABRA1GABRB2GABRB3GABRG2GAMTGATMGCKGFM1GLDCGLRA1GLULGNAO1GOSR2GPAA1GPC3GPHNGRIA3GRIN1GRIN2AGRIN2BGYS2HCFC1HCN1HIBCHHNRNPUHSD17B10IARS2IBA57IDH2IER3IP1IQSEC2ITPAKANSL1KCNA1KCNA2KCNB1KCNC1KCNH1KCNJ10KCNMA1KCNQ2KCNQ3KCNT1KCTD7KDM5CKDM6AKRIT1L2HGDHLAMA2LARGE1LGI1LIASLRPPRCMBD5MECP2MEF2CMFSD8MICU1MOCS1MOCS2MTFMTMTO1MTORNALCNNDUFA1NDUFA2NDUFAF2NDUFAF3NDUFAF4NDUFAF5NDUFAF6NDUFS1NDUFS4NDUFS6NDUFS7NDUFS8NDUFV1NECAP1NEDD4LNEU1NEXMIFNGLY1NHLRC1NOTCH3NPRL2NPRL3NR2F1NR4A2NRROSNRXN1OCLNOFD1OPHN1OTUD6BP4HTMPACS1PACS2PAFAH1B1PAK3PCDH12PCDH19PDCD10PDHA1PDHBPDHXPDP1PDSS2PEX7PHF6PHGDHPIGAPIGGPIGKPIGLPIGMPIGNPIGOPIGQPIGSPIGTPIGUPIGVPIGWPLCB1PLP1PLPBPPNKPPNPLA8PNPOPOLGPOMGNT1POMT1POMT2PPP2R5DPPT1PRRT2PURAQARS1RAB39BRAB3GAP1RALARALGAPA1RANBP2RARS2RELNRMND1ROGDIRRM2BSATB2SCARB2SCN1ASCN1BSCN2ASCN3ASCN8ASCO2SDHAF1SERAC1SERPINI1SETBP1SETD2SIK1SLC12A5SLC13A5SLC16A1SLC19A3SLC25A1SLC25A12SLC25A22SLC2A1SLC35A2SLC35A3SLC6A1SLC6A8SLC9A6SMARCA2SMC1ASMSSNAP25SNAP29SNX27SPATA5SPRSPTAN1ST3GAL3ST3GAL5STRADASTX1BSTXBP1SUCLA2SUOXSYN1SYNGAP1SYNJ1SYPSZT2TBC1D24TBL1XR1TCF4TPK1TPP1TSC1TSC2TSFMTUBA1ATUBA8TUBB2BTWNKUBE3AUGP2USP7VARS2VLDLRWDR26WDR37WDR45WDR62WWOXYWHAGZDHHC9ZEB2