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EpiPlex™ - Epileptic Encephalopathy Panel

Questions: 1-800-713-5198

Background

EpiPlex™ Epileptic Encephalopathy Panel is useful for the evaluation of patients with a suspected hereditary epilepsy syndrome. The test uses next-generation sequencing to detect mutations in multiple genes which have been associated with epilepsy predisposition. The assay completely sequences all coding regions of these genes AND detects large deletions, duplications, and mosaicism in the genes listed below. For information about how University of Washington Department of Laboratory Medicine reports variants, see Variant Policy.

Genes Tested (assay version 2)

GeneDiseaseReference (PMID)
ALDH5A1Succinic semialdehyde dehydrogenase deficiency20301374
ALDH7A1Pyridoxine-Dependent Epilepsy20301659
ALG13Epileptic encephalopthy, girls23934111
ARHGEF9X linked intellectual disability and hyperekplexia, Borjeson-Frossman-Lehmann syndrome21633362
ARXEpilepsy, infantile spasms, Lennox-Gastaut syndrome, Lissencephaly, agenesis of the corpus callosum14722918
CACNA1AEpileptic encephalopathy, hemiplegic migraine11342703
CDKL5Severe early onset epileptic encephalopathy - usually girls, boys even more severely affected (X-linked)12736870
CHD2CHD2-related neurodevelopmental disorders, early onset epileptic encephalopathy, photosensitive epilepsy, eyelid myoclonus26677509,23708187
CHRNA2ADNFLE, focal epilepsy20301348
CHRNA4ADNFLE, focal epilepsy20301348
CHRNA715q13.3 recurrent microdeletion syndrome, risk factor for idiopathic generalized epilepsy and neurodevelopmental disorders21290787,20502679
CHRNB2ADNFLE, focal epilepsy20301348
CYFIP115q11.2 recurrent microdeletion syndrome, risk factor for idiopathic generalized epilepsy and neurodevelopmental disorders19843651,20502679
DEPDC5Focal epilepsy with or without focal cortical dysplasia; familal focal epilepsy with variable foci23542701,23542697
DNM1Epileptic encephalopathy25262651
EEF1A2Epileptic encephalopathy, early myoclonic epilepsy23647072,24697219,26682508
FOXG1Congenital variant Rett syndrome24836831
GABRA1Dravet, Ohtahara, West syndrome; generalized epilepsy24623842,26918889
GABRB1Epileptic encephalopathy 
GABRB3Epileptic encephalopathy23934111,26645412
GABRG2Epileptic encephalopathy, Dravet-like11326275
GNAO1Epileptic encephalopathy23993195
GRIN1Early infantile epileptic encephalopathy25864721,26933583
GRIN2AEpilepsy aphasia syndromes23933818,23933819,23933820
GRIN2BEpileptic encephalopathy, infantile spasms, autism24272827
HCN1Epileptic encephalopathy, Dravet-like24747641
HNRNPUEarly infantile epileptic encephalopathy23934111
IQSEC2Non-syndromic X linked intellectual disability, epileptic encephelopathy, variant Rett syndrome20473311,23934111,23674175
KANSL1Koolen-de Vries (17q21 deletion) syndrome22544363,22544367
KCNA2Epileptic encephalopathy; myoclonic epilepsy with ataxia25751627
KCNB1Epileptic encephalopathy25164438
KCNH1Temple-Baraitser syndrome25420144
KCNH5Epilepsy aphasia syndromes; epileptic encephalopathy23647072
KCNQ2Benign familial infantile seizures; epileptic encephalopathy9425895,20437616
KCNQ3Benign familial infantile seizures9425900
KCNT1Epilepsy with migrating focal seizures in infancy (EMFSI), epileptic encephalopathy, autosomal dominant nocturnal frontal lobe epilepsy23086396,23086397,26122718,26140313
LGI1Autosomal dominant partial epilepsy with auditory features (ADPEAF)20301709
MBD5Severe ID + epilepsy, most are deletions23587880
MECP2Rett syndrome20301670
MEF2CInfatile spasms/encephalopathy23389741
MTORMegalencephaly, hemimegalencephaly, focal cortical dysplasia25799227
NDE1Lissencephaly with microcephaly (AR), plus deletion a risk factor for generalized epilepsy21529751
PCDH19Epilepsy in females with mental retardation (EFMR), now called girls' clustering epilepsy18469813,19214208
PIGAEarly infantile epileptic encephalopathy, ferro-cerebro-cutaneous syndrome26993267,24259288,24706016
PLCB1Epilepsy with migrating focal seizures in infancy (EMFSI); epileptic encephalopathy; AR inheritance, deletions reported 22690784,26818157
PNKPAtaxia with Oculomotor Apraxia 4 / syndrome of microcephaly, seizures, and developmental delay / progressive cerebellar atrophy and polyneuropathy25728773,23224214,20118933
PNPOPNPO deficieny, neonatal epileptic encephalopathy24645144
POLGPOLG-related disorders: mitochondrial DNA depletion syndromes, Alpers-Huttenlocher, progressive external ophthalmoplegia, Myoclonic epilepsy myopathy sensory ataxia (MEMSA)20301791
PTENCowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS) PTEN related hamartoma syndrome, autism, focal cortical dysplasia20301661
PURAEpileptic encephalopathy25342064,25439098
SCN1ADravet syndrome, GEFS+20301494
SCN1BEarly infantile epileptic encephalopathy9697698
SCN2AEpileptic encephalopathy11738931
SCN8AEpileptic encephalopathy25568300,22365152
SIK1Early onset epilepsy25839329
SLC13A5Autosomal recessive early onset epilepsy24995870
SLC1A2Epileptic encephalopathypending
SLC25A22Early onset epileptic encephalopathy21967765
SLC2A1GLUT1 deficiency syndrome20301603
SLC35A2Early onset epilepsy24115232
SLC6A1Myoclonic atonic epilepsy (MAE)25865495
SLC9A6Christianson syndrome; X-linked Angelman-like condition22541666,24630051
SPTAN1Epilepsy, infantile spasms, intellectual disability25631096
STX1BFever-associated epilepsies; Dravet-like25362483
STXBP1Otahara syndrome, early infantile epileptic encephalopathy (EIEE)26865513
SYN1Epilepsy, autism14985377,21441247
SYNGAP1Epileptic encephalopathy23708187,26989088
TBC1D24TBC1D24 related disorders: Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures (DOORS), familial infantile myoclonic epilepsy25719194
TCF4Pitt Hopkins syndrome22934316
TSC1Tuberous Sclerosis20301399
TSC2Tuberous Sclerosis20301399
UBE3AAngelman syndrome20301323
WDR45X linked neurodegeneration with brain iron accumulation (NBIA), static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), 23687123,23447832,23435086
WWOXEarly infantile epileptic encephalopathy, autosomal recessive spinocerebellar ataxia 1225411445,24369382
ZEB2Mowat Wilson syndrome20301585

Methods

This assay sequences all exons of multiple genes associated with inherited epilepsy syndromes. A total of 1.1Mb of DNA is sequenced and the average coverage ranges from 320 to >1,000 sequencing reads per bp. Genomic regions are captured using biotinylated RNA oliognucleotides (SureSelect), prepared in paired-end libraries with ~200 bp insert size, and sequenced on an Illumina HiSeq2500 instrument with 100 bp read lengths, in a modification of a procedure described by Pritchard et al. 2012 (1). Large deletions and duplications are detected using methods described by Nord et al. 2011 (2).

Requisition Form

UWMC Genetics Requisition

CPT Codes & Pricing

For CPT codes, see the Laboratory Medicine Online Test Guide entry for EPIPX.

For pricing information, contact Reference Laboratory Services (206) 685-6066 or (800) 713-5198

Billing and Insurance Pre-Authorization

Reference Range

No mutation detected.

Further Information

References

  1. Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, Gulden C, Kupfer SS, Swisher EM, Bennett RL, Novetsky AP, Jarvik GP, Olopade OI, Goodfellow PJ, King MC, Tait JF, Walsh T. ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing. J Mol Diagn. (2012)14:357-66. PubMed

  2. Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. PNAS (2010) 107:12629-33.

  3. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.

  4. Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. (2010) 11:31-46.

Specimen Requirements and Handling

For details regarding specimen collection, handling and transport, and for a link to our requisition form, see the Laboratory Medicine Online Test Guide for EPIPX

2016-07-18 17:22