Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR74860Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001591CPT Code 81419

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

Also known as: EPI NGS

Clinical Use

Order Test

Use

Epilepsy is a neurological disorder characterized by recurrent unprovoked seizures. It can be classified by seizure type, such as focal, generalized, or a combination of both. Epilepsy has significant genetic and phenotypic heterogeneity, and genetic testing can help in diagnosing idiopathic and syndromic forms where seizures are a main feature. This panel tests for genetic variants associated with epilepsy, which occurs in approximately 0.64% of the population worldwide, with a lifetime risk of 1 in 26. Genetic causes account for about 30% of epilepsy cases.

Special Instructions

Consent for genetic testing is required for New York patients. Use the Epilepsy Patient History Form with order submissions. Specimens from New York clients will be sent to a New York state-approved laboratory. Appropriate specimen types are critical, and specific tubes and volumes are required as per the ordering guidelines.

Limitations

This test detects variants in coding regions and intron-exon boundaries of the genes tested. It may not detect deletions or duplications of two or fewer exons, regulatory region variants, deep intronic variants, low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) variants, or repeat expansions. Deletion/duplication detection is limited for certain genes due to technical constraints. Interpretation may be affected by allogeneic stem cell transplantation and pseudogene presence.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (240 genes)

AARSABATADGRG1ADSLALDH5A1ALDH7A1ALG1ALG13ALG3ALG6ALG8ALG9AMACRAMTANKRD11AP3B2ARFGEF2ARG1ARHGEF9ARV1ARXASAH1ASNSATN1ATP1A1ATP1A3ATP6AP2ATP7AATRXBCKDKBRAT1BTDC12orf57CACNA1ACACNA1DCACNA1ECACNA2D2CADCARS2CASKCDKL5CHD2CHRNA4CHRNB2CLCN4CLN3CLN5CLN6CLN8CLTCCNKSR2CNTNAP2COL4A1CPT2CSTBCTSDCTSFCUL4BDCXDDX3XDEAF1DEPDC5DHDDSDIAPH1DMXL2DNAJC5DNM1DNM1LDOCK7DPAGT1DPM1DPYDDYNC1H1DYRK1AEEF1A2EHMT1EPM2AFARS2FGF12FKTNFLNAFOLR1FOXG1FRRS1LGABBR2GABRA1GABRB2GABRB3GABRDGABRG2GALCGAMTGATMGFAPGNAO1GNB1GOSR2GPHNGRIA3GRIN1GRIN2AGRIN2BHACE1HCN1HECW2HNRNPUHSD17B10IQSEC2ITPAKANSL1KCNA1KCNA2KCNB1KCNC1KCNH1KCNJ10KCNJ11KCNMA1KCNQ2KCNQ3KCNT1KCTD7KDM5CKIF1ALGI1MBD5MDH2MECP2MED17MEF2CMFSD8MOCS2MOGSMPDU1MTHFRMTORNDE1NECAP1NEDD4LNEU1NEXMIFNGLY1NHLRC1NPRL2NPRL3NR2F1NRXN1NSD1NTRK2OPHN1PACS1PAFAH1B1PCDH19PEX1PEX12PEX2PEX3PEX6PHF6PHGDHPIGAPIGGPIGNPIGOPIGQPIGTPIGVPLCB1PLPBPPMM2PNKPPNPOPOLGPPT1PRICKLE2PRRT2PSAPPTPN23PURAQARS1QDPRRELNRFT1RNASEH2ARNASEH2BRNASEH2CROGDIRORBSAMHD1SATB2SCARB2SCN1ASCN1BSCN2ASCN3ASCN8ASERPINI1SETBP1SLC12A5SLC13A5SLC19A3SLC1A2SLC25A12SLC25A22SLC2A1SLC35A2SLC6A1SLC9A6SMARCA2SMC1ASMSSNAP25SPATA5SPTAN1ST3GAL3ST3GAL5STRADASTX1BSTXBP1SUOXSYN1SYNGAP1SYNJ1SZT2TBC1D24TBL1XR1TCF4TPK1TPP1TREX1TSC1TSC2TSEN54UBA5UBE3AUNC80VPS13AWDR45WWOXZEB2