Epilepsy and Seizure Plus Panel

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
7957 ABAT 81479,81479 Order Options and Pricing
ADSL 81479,81479
ALDH5A1 81479,81479
ALDH7A1 81406,81479
ALG13 81479,81479
AMT 81479,81479
ANKRD11 81479,81479
AP3B2 81479,81479
ARHGEF9 81479,81479
ARID1B 81479,81479
ARV1 81479,81479
ARX 81404,81403
ATP1A2 81406,81479
ATP1A3 81479,81479
ATP6AP2 81479,81479
ATRX 81479,81479
BCKDK 81479,81479
BRAT1 81479,81479
C12orf57 81479,81479
CACNA1A 81185,81479
CACNA1H 81479,81479
CACNA2D2 81479,81479
CACNB4 81479,81479
CAD 81479,81479
CARS2 81479,81479
CASK 81479,81479
CASR 81405,81479
CDKL5 81406,81405
CERS1 81479,81479
CHD2 81479,81479
CHRNA2 81479,81479
CHRNA4 81405,81479
CHRNB2 81405,81479
CLCN4 81479,81479
CLN3 81479,81479
CLN5 81479,81479
CLN6 81479,81479
CLN8 81479,81479
CLTC 81479,81479
CNTN2 81479,81479
CNTNAP2 81406,81479
COL4A1 81408,81479
COQ4 81479,81479
CPA6 81479,81479
CSTB 81189,81479
CTSD 81479,81479
DDX3X 81479,81479
DENND5A 81479,81479
DEPDC5 81479,81479
DHDDS 81479,81479
DIAPH1 81479,81479
DNAJC5 81479,81479
DNM1 81479,81479
DOCK7 81479,81479
DYRK1A 81479,81479
EEF1A2 81479,81479
EFHC1 81479,81479
EHMT1 81479,81479
EPM2A 81404,81479
FARS2 81479,81479
FASN 81479,81479
FGF12 81479,81479
FLNA 81479,81479
FOLR1 81479,81479
FOXG1 81404,81479
FRRS1L 81479,81479
GABBR2 81479,81479
GABRA1 81479,81479
GABRB1 81479,81479
GABRB2 81479,81479
GABRB3 81479,81479
GABRD 81479,81479
GABRG2 81405,81479
GAMT 81479,81479
GATM 81479,81479
GCSH 81479,81479
GLDC 81479,81479
GLRA1 81479,81479
GNAO1 81479,81479
GOSR2 81479,81479
GPHN 81479,81479
GRIN1 81479,81479
GRIN2A 81479,81479
GRIN2B 81479,81479
GRIN2D 81479,81479
GRN 81406,81479
GUF1 81479,81479
HCN1 81479,81479
HCN2 81479,81479
HECW2 81479,81479
HIVEP2 81479,81479
HNRNPU 81479,81479
IER3IP1 81479,81479
IQSEC2 81479,81479
ITPA 81479,81479
KANSL1 81479,81479
KCNA1 81479,81479
KCNA2 81479,81479
KCNB1 81479,81479
KCNC1 81479,81479
KCNH1 81479,81479
KCNJ10 81404,81479
KCNMA1 81479,81479
KCNQ2 81406,81479
KCNQ3 81479,81479
KCNT1 81479,81479
KCTD7 81479,81479
KPNA7 81479,81479
LGI1 81479,81479
LIAS 81479,81479
MBD5 81479,81479
MDH2 81479,81479
MECP2 81302,81304
MEF2C 81479,81479
MFSD8 81479,81479
MTOR 81479,81479
NAGA 81479,81479
NECAP1 81479,81479
NEDD4L 81479,81479
NEXMIF 81479,81479
NGLY1 81479,81479
NHLRC1 81403,81479
NPRL2 81479,81479
NPRL3 81479,81479
NRXN1 81479,81479
NTRK2 81479,81479
NUS1 81479,81479
PACS1 81479,81479
PCDH19 81405,81479
PIGA 81479,81479
PIGG 81479,81479
PIGN 81479,81479
PIGO 81479,81479
PIGP 81479,81479
PIGQ 81479,81479
PLCB1 81479,81479
PLPBP 81479,81479
PNKP 81479,81479
PNPO 81479,81479
POLG 81406,81479
PPP3CA 81479,81479
PPT1 81479,81479
PRICKLE1 81479,81479
PRICKLE2 81479,81479
PRRT2 81479,81479
PTEN 81321,81323
PURA 81479,81479
QARS1 81479,81479
RBFOX1 81479,81479
RBFOX3 81479,81479
RELN 81479,81479
ROGDI 81479,81479
RORB 81479,81479
SATB2 81479,81479
SCARB2 81479,81479
SCN1A 81407,81479
SCN1B 81404,81479
SCN2A 81479,81479
SCN3A 81479,81479
SCN8A 81479,81479
SCN9A 81479,81479
SERPINI1 81479,81479
SLC12A5 81479,81479
SLC13A5 81479,81479
SLC19A3 81479,81479
SLC25A12 81479,81479
SLC25A22 81479,81479
SLC2A1 81405,81479
SLC35A2 81479,81479
SLC6A1 81479,81479
SLC6A8 81479,81479
SLC9A6 81406,81479
SMC1A 81479,81479
SNAP25 81479,81479
SPATA5 81479,81479
SPTAN1 81479,81479
ST3GAL3 81479,81479
ST3GAL5 81479,81479
STRADA 81479,81479
STX1B 81479,81479
STXBP1 81406,81479
SYN1 81479,81479
SYNGAP1 81479,81479
SYNJ1 81479,81479
SZT2 81479,81479
TBC1D24 81479,81479
TBL1XR1 81479,81479
TCF4 81406,81405
TPK1 81479,81479
TPP1 81479,81479
TSC1 81406,81405
TSC2 81407,81406
UBA5 81479,81479
UBE3A 81406,81479
WDR45 81479,81479
WWOX 81479,81479
YWHAG 81479,81479
ZEB2 81405,81404
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
7957Genes x (198)81479 81185, 81189, 81302, 81304, 81321, 81323, 81403, 81404, 81405, 81406, 81407, 81408, 81479 $790 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available.

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

This panel sequences genes associated with idiopathic and syndromic epilepsy in which seizures are a major clinical feature and have consistent expressivity (>50% of cases). This panel does not have broad coverage of genes for which the evidence for disease association is preliminary or questionable. 

Seizures are caused by abnormal activity in the brain resulting in changes in behavior, motor movements, feelings, or consciousness. Seizures may be triggered by an environmental insult such as head trauma, stroke, or febrile episode, or may be the result of a genetic disease. Seizures are classified based on their site of onset: focal, generalized, and unknown (Fisher et al. 2017. PubMed ID: 28276064).   

Epilepsy is defined as recurred unprovoked seizures, and it is divided into subtypes based on the seizures involved: focal, generalized, combined generalized and focal, and unknown (Scheffer et al. 2017. PubMed ID: 28276062). Epilepsy occurs among individuals that are otherwise typically-functioning and as a comorbidity in complex neurological diseases. Epilepsy is heterogeneous—there is great variation in the age of onset, type of seizures, developmental outcome, EEG and image findings, response to medication, and associated comorbidities. An epilepsy syndrome refers to a cluster of features incorporating seizure types, together with EEG, and imaging findings (Scheffer et al. 2017. PubMed ID: 28276062).

The etiology of epilepsy is also classified by Scheffer et al. and includes structural, genetic, infectious, metabolic and immune, as well as unknown causes. Importantly, structural and metabolic etiologies may be caused by genetic variants. All etiologies with evidence for genetic causes are included in this panel. 

One in 26 people will develop epilepsy in their lifetime (Epilepsy Foundation), and the estimated prevalence is 7 per 1,000 (Hirtz et al. 2007. PubMed ID: 17261678). Identifying the molecular basis of a patient’s epilepsy may provide valuable information to inform prognosis, recurrence risk, and treatment.  In particular, targeted therapy of genetic epilepsies is an area of rapid change and great promise (see table below). Some patients may benefit from drugs that target a specific pathway, gene product, or functional change to a specific protein (Musto et al. 2020. PubMed ID: 31889633; Reif et al. 2017. PubMed ID: 27781560).

Genetics

Epilepsy is genetically heterogeneous. Over 300 genes are associated with disorders that include epilepsy as a major feature, and over 600 genes are associated with an increased risk for developing epilepsy. 

Mild forms of epilepsy may be inherited as a familial trait; however, many epilepsy cases are sporadic, occurring in families with no prior history of seizures (Allen et al. 2013. PubMed ID: 23934111). Sporadic epilepsy may be inherited by X-linked or autosomal recessive transmission, but are more commonly caused by dominant, de novo variants in neuronally-expressed genes. De novo pathogenic missense variants are especially common among genetic epilepsies. For example, missense variants in ion channels (channelopathies) may modify gating kinetics, ion permeability, voltage sensitivity or ligand-binding imparting both gain- or loss-of-function effects (Kullmann. 2002. PubMed ID: 12023309). In addition, a large number of epilepsy-related genes are sensitive to null mutation, and chain-terminating variants that are well-documented to be pathogenic (Human Gene Mutation Database). Finally, rare cases of epilepsy have been attributed to copy number changes involving epilepsy-related genes (ARHGEF9, ARX, CDKL5, CHD2, DNM1, FOXG1, GABRA1, GABRB3, GABRG2, GRIN2A, MBD5, MECP2, MEF2C, PCDH19, PLCB1, PRRT2, SCN1A, SCN2A, SCN8A, SLC2A1, SLC9A6, SPTAN1, STX1B, STXBP1, TSC1 and TSC2). This test includes CNV analysis.  

This panel contains about 200 genes associated with syndromic and non-syndromic epilepsy of diverse forms. Examples of well-characterized epilepsy syndromes are listed below and include developmental epileptic encephalopathies, epilepsy with intellectual disability, metabolic disorders, brain malformation disorders, mitochondrial disorders, brain tumors, etc. (Wilmshurst et al. 2015. PubMed ID: 26122601; Baldassari et al. 2016. PubMed ID: 27208208; Ricos et al. 2016. PubMed ID: 26505888; Møller et al. 2016. PubMed ID: 27781031; de Kovel et al. 2016. PubMed ID: 27652284; Hildebrand et al. 2016. PubMed ID: 27029629; von Spiczak et al. 2017. PubMed ID: 28667181; Hamdan et al. 2017. PubMed ID: 29100083). 

Tuberous Sclerosis: TSC1 and TSC2

Infantile Spasm: ADSL, ARX, CDKL5, PNPO, MEF2C, SCN1A, SCN2A, STXBP1, TSC1, and TSC2

Focal epilepsy: CHRNA4, CHRNB2, CHRNA2, CNTNAP2, DEPDC5, KCNT1, GRIN2A, GRIN2B, LGI1, NPRL2, NPRL3, PCDH19, RELN, SCN1A, and TBC1D24

Dravet Syndrome: SCN1A, SCN1B, GABRG2, SCN2A, SCN9A, PCDH19, GABRA1, STXBP1, and CHD2

Generalized Epilepsy with Febrile Seizures Plus (GEFS+): SCN1A, SCN1B, SCN2A, SCN9A, GABRG2, and STX1B

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy: CHRNA4, CHRNB2, CHRNA2, DEPDC5, and KCNT1

Benign Familial Neonatal or Infantile Seizures: KCNQ2, KCNQ3, and PRRT2

Early-onset Absence Epilepsy: SLC2A1

X-linked Infantile Spasms: ARX

Epilepsy and Mental Retardation Limited to Females: PCDH19

Ohtahara Syndrome: ARX, STXBP1, SCN2A, KCNQ2, KCNT1, SLC25A22, CDKL5, PNKP, and SPTAN1

Rett Syndrome: MECP2, CDKL5, and FOXG1

Angelman syndrome: UBE3A

Mowat-Wilson syndrome: ZEB2

Neuronal Ceroid Lipofuscinosis: TPP1, PPT1, CLN3, CLN5, CLN6, MFSD8, CLN8, and KCTD7

Lafora Disease: EPM2A and NHLRC1

Selected Metabolic Disorders: FOLR1, GAMT, ALDH7A1, PNPO, and SLC19A3

Mitochondrial Disease: POLG, FARS2, and SLC25A22

Importantly, this panel includes over 26 genes that have been associated with precision therapy in gene-drug studies. 

Gene Inheritance Mode Treatment Related References
ALDH7A1 AR Bennett et al. 2009. PubMed ID: 19128417
BCKDK AR Oyarzabal et al. 2016. PubMed ID: 26809120
CAD AR Koch et al. 2017. PubMed ID:28007989
CHRNA4 AD Kurahashi and Hirose. 2015. PubMed ID: 20301348
DEPDC5 AD Myers and Scheffer 2017. PubMed ID: 28406046
FOLR1 AR Steinfeld et al. 2009. PubMed ID: 19732866
GAMT AR Bodamer et al. 2009. PubMed ID: 19255414
GRIN2A AD Pierson et al 2014. PubMed ID: 24839611
GRIN2B AD Platzer et al 2017. PubMed ID: 28377535
GRIN2D AD Li et al. 2016. PubMed ID: 27616483
KCNQ2 AD Sands et al. 2016. PubMed ID: 27888506
KCNQ3 AD Sands et al. 2016. PubMed ID: 27888506
KCNT1 AD Mikati et al. 2015. PubMed ID: 26369628
PCDH19 AD Trivisano et al. 2015. PubMed ID: 25510386
PNPO AR Bagci et al. 2007. PubMed ID: 18296573
POLG AR Hynynen et al 2014. PubMed ID: 25065347
(PLPBP) PROSC AR Darin et al 2016. PubMed ID: 27912044
PRRT2 AD Chou et al 2014. PubMed ID: 25520928
SCN1A AD Miller and Sotero de Menezes. 2007. PubMed ID: 20301494
SCN2A AD Wolff et al. 2017. PubMed ID: 28379373
SCN8A AD Boerma et al. 2016. PubMed ID: 26252990
SLC19A3 AR Tabarki et al. 2013. PubMed ID: 23269594
SLC2A1 AD Leen et al. 2010. PubMed ID: 20129935
STXBP1 AD Dilena et al. 2016. PubMed ID: 26212315
TSC1 AD Palavra et al. 2017. PubMed ID: 28386314
TSC2 AD Palavra et al. 2017. PubMed ID: 28386314

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.  

Clinical Sensitivity - Sequencing with CNV PG-Select

This panel includes genes causative for autosomal dominant, autosomal recessive and X-linked epilepsy and seizures. Extrapolating from previously published studies of next generation sequencing in large cohorts, a positive test result is expected in the proportions listed: 37% for early infantile epileptic encephalopathy (Della Mina et al. 2015. PubMed ID:24848745; Wang et al. 2014. PubMed ID:24818677; Ream and Mikati. 2014.PubMed ID:25108116), 25-35% for autosomal dominant nocturnal frontal lobe epilepsy, 12-37% for autosomal dominant focal epilepsy (Dibbens et al. 2013. PubMed ID:23542697; Picard et al. 2014. PubMed ID:24814846), 90% for Dravet syndrome (Carvill et al. 2014. PubMed ID:24623842).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.5% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Indications for Test

Testing is recommended for patients with syndromic or non-syndromic epilepsy and where a genetic predisposition is suspected.

Genes

Official Gene Symbol OMIM ID
ABAT 137150
ADSL 608222
ALDH5A1 610045
ALDH7A1 107323
ALG13 300776
AMT 238310
ANKRD11 611192
AP3B2 602166
ARHGEF9 300429
ARID1B 614556
ARV1 611647
ARX 300382
ATP1A2 182340
ATP1A3 182350
ATP6AP2 300556
ATRX 300032
BCKDK 614901
BRAT1 614506
C12orf57 615140
CACNA1A 601011
CACNA1H 607904
CACNA2D2 607082
CACNB4 601949
CAD 114010
CARS2 612800
CASK 300172
CASR 601199
CDKL5 300203
CERS1 606919
CHD2 602119
CHRNA2 118502
CHRNA4 118504
CHRNB2 118507
CLCN4 302910
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
CLTC 118955
CNTN2 190197
CNTNAP2 604569
COL4A1 120130
COQ4 612898
CPA6 609562
CSTB 601145
CTSD 116840
DDX3X 300160
DENND5A 617278
DEPDC5 614191
DHDDS 608172
DIAPH1 602121
DNAJC5 611203
DNM1 602377
DOCK7 615730
DYRK1A 600855
EEF1A2 602959
EFHC1 608815
EHMT1 607001
EPM2A 607566
FARS2 611592
FASN 600212
FGF12 601513
FLNA 300017
FOLR1 136430
FOXG1 164874
FRRS1L 604574
GABBR2 607340
GABRA1 137160
GABRB1 137190
GABRB2 600232
GABRB3 137192
GABRD 137163
GABRG2 137164
GAMT 601240
GATM 602360
GCSH 238330
GLDC 238300
GLRA1 138491
GNAO1 139311
GOSR2 604027
GPHN 603930
GRIN1 138249
GRIN2A 138253
GRIN2B 138252
GRIN2D 602717
GRN 138945
GUF1 617064
HCN1 602780
HCN2 602781
HECW2 617245
HIVEP2 143054
HNRNPU 602869
IER3IP1 609382
IQSEC2 300522
ITPA 147520
KANSL1 612452
KCNA1 176260
KCNA2 176262
KCNB1 600397
KCNC1 176258
KCNH1 603305
KCNJ10 602208
KCNMA1 600150
KCNQ2 602235
KCNQ3 602232
KCNT1 608167
KCTD7 611725
KPNA7 614107
LGI1 604619
LIAS 607031
MBD5 611472
MDH2 154100
MECP2 300005
MEF2C 600662
MFSD8 611124
MTOR 601231
NAGA 104170
NECAP1 611623
NEDD4L 606384
NEXMIF 300524
NGLY1 610661
NHLRC1 608072
NPRL2 607072
NPRL3 600928
NRXN1 600565
NTRK2 600456
NUS1 610463
PACS1 607492
PCDH19 300460
PIGA 311770
PIGG 616918
PIGN 606097
PIGO 614730
PIGP 605938
PIGQ 605754
PLCB1 607120
PLPBP 604436
PNKP 605610
PNPO 603287
POLG 174763
PPP3CA 114105
PPT1 600722
PRICKLE1 608500
PRICKLE2 608501
PRRT2 614386
PTEN 601728
PURA 600473
QARS1 603727
RBFOX1 605104
RBFOX3 616999
RELN 600514
ROGDI 614574
RORB 601972
SATB2 608148
SCARB2 602257
SCN1A 182389
SCN1B 600235
SCN2A 182390
SCN3A 182391
SCN8A 600702
SCN9A 603415
SERPINI1 602445
SLC12A5 606726
SLC13A5 608305
SLC19A3 606152
SLC25A12 603667
SLC25A22 609302
SLC2A1 138140
SLC35A2 314375
SLC6A1 137165
SLC6A8 300036
SLC9A6 300231
SMC1A 300040
SNAP25 600322
SPATA5 613940
SPTAN1 182810
ST3GAL3 606494
ST3GAL5 604402
STRADA 608626
STX1B 601485
STXBP1 602926
SYN1 313440
SYNGAP1 603384
SYNJ1 604297
SZT2 615463
TBC1D24 613577
TBL1XR1 608628
TCF4 602272
TPK1 606370
TPP1 607998
TSC1 605284
TSC2 191092
UBA5 610552
UBE3A 601623
WDR45 300526
WWOX 605131
YWHAG 605356
ZEB2 605802
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Adenylosuccinate Lyase Deficiency AR 103050
AGAT Deficiency AR 612718
Alternating Hemiplegia Of Childhood AD 104290
Alternating Hemiplegia of Childhood 2 AD 614820
Amish Infantile Epilepsy Syndrome AR 609056
Angelman Syndrome AD 105830
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development AD 618265
Ataxia-oculomotor apraxia 4 AR 616267
ATR-X Syndrome XL 301040
Basal Ganglia Disease, Biotin-Responsive AR 607483
Benign Familial Neonatal Seizures 1 AD 121200
Benign Familial Neonatal-Infantile Seizures AD 607745
Branched-chain ketoacid dehydrogenase kinase deficiency 614923
CAPOS syndrome AD 601338
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cerebellar atrophy with seizures and variable developmental delay AR 618501
Cerebellar atrophy, developmental delay, and seizures AR 617643
Cerebral Creatine Deficiency Syndrome 1 XL 300352
Cerebral Folate Deficiency AR 613068
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Ceroid Lipofuscinosis Neuronal 10 AR 610127
Ceroid Lipofuscinosis Neuronal 11 AR 614706
Ceroid Lipofuscinosis Neuronal 14 AR 611726
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Ceroid Lipofuscinosis Neuronal 3 AR 204200
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive AR 204300
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant AD 162350
Ceroid Lipofuscinosis Neuronal 5 AR 256731
Ceroid Lipofuscinosis Neuronal 6 AR 601780
Ceroid Lipofuscinosis Neuronal 7 AR 610951
Ceroid Lipofuscinosis Neuronal 8 AR 600143
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant AR 610003
Charcot-Marie-Tooth Disease Type 2B2 AR 605589
Chromosome 9Q Deletion Syndrome AD 610253
Coenzyme Q10 Deficiency, Primary, 7 AR 616276
Coffin-Siris Syndrome 1 AD 135900
Cognitive Impairment With Or Without Cerebellar Ataxia AD 614306
Combined oxidative phosphorylation deficiency 14 AR 614946
Combined Oxidative Phosphorylation Deficiency 27 AR 616672
Congenital Disorder of Deglycosylation AR 615273
Congenital Disorder of Glycosylation Type IIm XL 300896
Congenital disorder of glycosylation, type 1aa AR 617082
Congenital disorder of glycosylation, type IIr XL 301045
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis AD 602066
Corneal dystrophy, Fuchs endothelial, 3 AD 613267
Cornelia de Lange syndrome 2 XL 300590
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Cowden Disease AD 158350
Deafness , autosomal recessive 86 AR 614617
Deafness, Autosomal Dominant 1 AD 124900
Deafness, autosomal dominant 65 AD 616044
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Developmental and Epileptic Encephalopathy 4 AD 612164
Developmental Delay and Seizures with or without Movement Abnormalities AD 617836
DOOR syndrome AR 220500
Dystonia 12 AD 128235
Dystonia 9 AD 601042
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations XL 300673
Enlarged Vestibular Aqueduct Syndrome AR 600791
Epilepsy Juvenile Absence AD 607631
Epilepsy, Childhood Absence 2 AD 607681
Epilepsy, Early-Onset, Vitamin B6-Dependent AR 617290
Epilepsy, familial focal, with variable foci AD 604364
Epilepsy, Familial Focal, with Variable Foci 2 AD 617116
Epilepsy, Familial Focal, with Variable Foci 3 AD 617118
Epilepsy, familial focal, with variable foci 4 AD 617935
Epilepsy, Familial Temporal Lobe, 5 AR 614417
Epilepsy, Familial Temporal Lobe, 7 AD 616436
Epilepsy, focal, with speech disorder and with or without mental retardation AD 245570
Epilepsy, Hearing Loss, and Mental Retardation Syndrome AR 616577
Epilepsy, Idiopathic Generalized 10 AD 613060
Epilepsy, Idiopathic Generalized 9 AD 607682
Epilepsy, idiopathic generalized, susceptibility to, 14 AD 616685
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 AD 614847
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant AD 600512
Epilepsy, Myoclonic, Familial Adult, 5 AR 615400
Epilepsy, nocturnal frontal lobe, 5 AD 615005
Epilepsy, Nocturnal Frontal Lobe, Type 1 AD 600513
Epilepsy, Nocturnal Frontal Lobe, Type 3 605375
Epilepsy, Nocturnal Frontal Lobe, Type 4 AD 610353
Epilepsy, Progressive Myoclonic 3 AR 611726
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure AR 254900
Epilepsy, Progressive Myoclonic 6 AR 614018
Epilepsy, Progressive Myoclonic 7 AD 616187
Epilepsy, Progressive Myoclonic, 8 AR 616230
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp AR 608105
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders XL 300491
Epileptic encephalopathy, childhood-onset AD 615369
Epileptic encephalopathy, early infantile, 1 XL 308350
Epileptic Encephalopathy, Early Infantile, 10 AR 613402
Epileptic Encephalopathy, Early Infantile, 11 AD 613721
Epileptic Encephalopathy, Early Infantile, 12 AR 613722
Epileptic Encephalopathy, Early Infantile, 13 AD 614558
Epileptic encephalopathy, early infantile, 14 AD 614959
Epileptic Encephalopathy, Early Infantile, 15 AR 615006
Epileptic Encephalopathy, Early Infantile, 16 AR 615338
Epileptic Encephalopathy, Early Infantile, 17 AD 615473
Epileptic encephalopathy, early infantile, 18 AR 615476
Epileptic Encephalopathy, Early Infantile, 19 AD 615744
Epileptic Encephalopathy, Early Infantile, 2 XL 300672
Epileptic Encephalopathy, Early Infantile, 21 AR 615833
Epileptic Encephalopathy, Early Infantile, 23 AR 615859
Epileptic Encephalopathy, Early Infantile, 24 AD 615871
Epileptic Encephalopathy, Early Infantile, 25 AR 615905
Epileptic Encephalopathy, Early Infantile, 26 AD 616056
Epileptic Encephalopathy, Early Infantile, 27 AD 616139
Epileptic Encephalopathy, Early Infantile, 28 AR 616211
Epileptic Encephalopathy, Early Infantile, 3 AR 609304
Epileptic Encephalopathy, Early Infantile, 31 AD 616346
Epileptic Encephalopathy, Early Infantile, 32 AD 616366
Epileptic Encephalopathy, Early Infantile, 33 AD 616409
Epileptic Encephalopathy, Early Infantile, 34 AR 616645
Epileptic Encephalopathy, Early Infantile, 35 AR 616647
Epileptic Encephalopathy, Early Infantile, 36 XL 300884
Epileptic Encephalopathy, Early Infantile, 37 AR 616981
Epileptic Encephalopathy, Early Infantile, 38 AR 617020
Epileptic Encephalopathy, Early Infantile, 39 AR 612949
Epileptic Encephalopathy, Early Infantile, 40 AR 617065
Epileptic Encephalopathy, Early Infantile, 42 AD 617106
Epileptic Encephalopathy, Early Infantile, 43 AD 617113
Epileptic Encephalopathy, Early Infantile, 44 AR 617132
Epileptic Encephalopathy, Early Infantile, 45 AD 617153
Epileptic Encephalopathy, Early Infantile, 46 AD 617162
Epileptic Encephalopathy, Early Infantile, 47 AD 617166
Epileptic Encephalopathy, Early Infantile, 48 AR 617276
Epileptic Encephalopathy, Early Infantile, 49 AR 617281
Epileptic Encephalopathy, Early Infantile, 5 AD 613477
Epileptic Encephalopathy, Early Infantile, 50 AR 616457
Epileptic Encephalopathy, Early Infantile, 51 AR 617339
Epileptic encephalopathy, early infantile, 52 AR 617350
Epileptic Encephalopathy, Early Infantile, 53 AR 617389
Epileptic Encephalopathy, Early Infantile, 54 AD 617391
Epileptic Encephalopathy, Early Infantile, 55 AR 617599
Epileptic Encephalopathy, Early Infantile, 56 AD 617665
Epileptic Encephalopathy, Early Infantile, 58 AD 617830
Epileptic Encephalopathy, Early Infantile, 59 AD 617904
Epileptic Encephalopathy, Early Infantile, 62 AD 617938
Epileptic Encephalopathy, Early Infantile, 7 AD 613720
Epileptic encephalopathy, early infantile, 74 AD 618396
Epileptic encephalopathy, early infantile, 77 AR 618548
Epileptic Encephalopathy, Early Infantile, 8 XL 300607
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects 301044
Epileptic Encephalopathy, Early Infantile, 9 XL 300088
Epileptic Encephalopathy, Infantile or Early Childhood, 1 AD 617711
Epileptic Encephalopathy, Infantile or Early Childhood, 2 AD 617829
Episodic Ataxia Type 1 AD 160120
Episodic Ataxia Type 2 AD 108500
Episodic Ataxia, Type 5 AD 613855
Episodic Kinesigenic Dyskinesia 1 AD 128200
Familial Benign Hypercalcemia AD 145980
Familial Encephalopathy With Neuroserpin Inclusion Bodies AD 604218
Familial Hemiplegic Migraine Type 1 AD 141500
Familial Hemiplegic Migraine Type 2 AD 602481
Familial Hemiplegic Migraine Type 3 AD 609634
Fanconi renotubular syndrome 1 AD 134600
Febrile seizures, familial, 11 AR 614418
FG Syndrome 2 XL 300321
FG Syndrome 4 300422
Frontometaphyseal Dysplasia XL 305620
Frontotemporal Dementia, Ubiquitin-Positive AD 607485
Gamma Aminobutyric Acid Transaminase Deficiency AR 613163
Generalized Epilepsy And Paroxysmal Dyskinesia AD 609446
Generalized Epilepsy With Febrile Seizures Plus, Type 1 AD 604233
Generalized epilepsy with febrile seizures plus, type 10 AD 618482
Generalized Epilepsy With Febrile Seizures Plus, Type 2 AD 604403
Generalized Epilepsy With Febrile Seizures Plus, Type 3 AD 611277
Generalized Epilepsy With Febrile Seizures Plus, Type 7 AD 613863
Generalized Epilepsy with Febrile Seizures Plus, Type 9 AD 616172
Glass Syndrome AD 612313
Glut1 Deficiency Syndrome 1 AR 606777
Glut1 Deficiency Syndrome 2 AD 612126
Glycine Encephalopathy AR 605899
Hyperaldosteronism, Familial, Type IV AD 617027
Hyperekplexia Hereditary AR 149400
Hyperparathyroidism, Neonatal Severe Primary AR 239200
Hyperphosphatasia with mental retardation syndrome 2 AR 614749
Hypocalcemia, autosomal dominant AD 601198
Indifference To Pain, Congenital, Autosomal Recessive AR 243000
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Juvenile Myoclonic Epilepsy AD 254770
Kanzaki Disease AR 609242
KBG Syndrome AD 148050
Kohlschutter-Tonz syndrome AR 226750
Koolen-De Vries Syndrome AD 610443
Lafora Disease AR 254780
Liang-Wang syndrome AD 618729
Lissencephaly 2 AR 257320
Macrocephaly/Autism Syndrome AD 605309
Macular Dystrophy with Central Cone Involvement AR 616170
MECP2 Duplication Syndrome XL 300260
Melnick-Needles Syndrome XL 309350
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia XL 300749
Mental Retardation, Autosomal Dominant 1 AD 156200
Mental Retardation, Autosomal Dominant 31 AD 616158
Mental retardation, autosomal dominant 38 AD 616393
Mental Retardation, Autosomal Dominant 41 AD 616944
Mental Retardation, Autosomal Dominant 43 AD 616977
Mental Retardation, Autosomal Dominant 5 AD 612621
Mental Retardation, Autosomal Dominant 55, with Seizures AD 617831
Mental Retardation, Autosomal Dominant 56 AD 617854
Mental Retardation, Autosomal Dominant 6 AD 613970
Mental Retardation, Autosomal Dominant 7 AD 614104
Mental Retardation, Autosomal Dominant 8 AD 614254
Mental Retardation, Autosomal Recessive 12 AR 611090
Mental Retardation, Autosomal Recessive 53 AR 616917
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations AD 613443
Mental Retardation, X-Linked 1/78 XL 309530
Mental Retardation, X-Linked 102 XL 300958
Mental Retardation, X-linked 49 XL 300114
Mental Retardation, X-linked 98 XL 300912
Mental Retardation, X-Linked, Syndromic 13 XL 300055
Mental Retardation, X-Linked, Syndromic, Christianson Type XL 300243
Mental Retardation, X-Linked, Syndromic, Hedera Type XL 300423
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant AD 618564
Microcephaly, Epilepsy, And Diabetes Syndrome AR 614231
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy AR 615760
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type AR 613662
Molybdenum Cofactor Deficiency C AR 615501
Mowat-Wilson Syndrome AD 235730
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome AR 614080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Myasthenic Syndrome, Congenital, 18 AD 616330
Myoclonic Epilepsy, Familial Infantile AR 605021
Myoclonic-Atonic Epilepsy AD 616421
Myoclonus, familial, 2 AD 618364
Neurodegeneration With Brain Iron Accumulation 5 XL 300894
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures AR 618056
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language AD 617268
Neurodevelopmental Disorder with Involuntary Movements AD 617493
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive AR 617820
Neurodevelopmental disorder with poor language and loss of hand skills AD 617903
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Parkinson Disease 20 AR 615530
Paroxysmal Extreme Pain Disorder AD 167400
Partington X-Linked Mental Retardation Syndrome XL 309510
Periventricular Nodular Heterotopia 7 AD 617201
Pierpont syndrome AD 602342
Pitt-Hopkins Syndrome AD 610954
Pitt-Hopkins-like syndrome 2 AR 614325
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy AR 611087
Porencephaly 1 AD 175780
Primary Erythromelalgia AD 133020
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions 1 AD 157640
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Recessive AR 258450
Progressive Myoclonus Epilepsy With Ataxia AR 612437
Progressive Sclerosing Poliodystrophy AR 203700
Proud Levine Carpenter Syndrome XL 300004
Pyridoxal 5'-Phosphate-Dependent Epilepsy AR 610090
Pyridoxine-Dependent Epilepsy AR 266100
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency AR 614462
Retinitis Pigmentosa 59 AR 613861
Rett Syndrome XL 312750
Rett Syndrome, Congenital Variant AD 613454
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal AR 614498
Schindler Disease, Type 1 AR 609241
Schuurs-Hoeijmakers Syndrome AD 615009
Seizures, Benign Familial Infantile, 2 AD 605751
Seizures, benign familial infantile, 5 AD 617080
Seizures, Benign Familial Neonatal, 2 AD 121201
Seizures, Cortical Blindness, Microcephaly Syndrome AR 616632
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis AR 607459
SeSAME Syndrome AR 612780
Severe Myoclonic Epilepsy In Infancy AD 607208
Smith-Kingsmore Syndrome AD 616638
Spastic Paraplegia 77 AR 617046
Spinocerebellar Ataxia 6 AD 183086
Spinocerebellar ataxia, autosomal recessive 12 AR 614322
Spinocerebellar ataxia, autosomal recessive 24 AR 617133
Spinocerebellar ataxia, autosomal recessive 7 AR 609270
Stomatin-deficient cryohydrocytosis with neurologic defects AD 608885
Succinate-Semialdehyde Dehydrogenase Deficiency AR 271980
Temple-Baraitser Syndrome AD 611816
Temtamy Syndrome AR 218340
Terminal Osseous Dysplasia XL 300244
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) AR 614458
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254
Unverricht-Lundborg Syndrome AR 254800
X-Linked Lissencephaly 2 XL 300215
X-Linked Periventricular Heterotopia XL 300049
Zimmermann-Laband Syndrome 1 AD 135500
{Epilepsy, idiopathic generalized, susceptibility to, 15} AD 618357
{Epilepsy, idiopathic generalized, susceptibility to, 16} AD 618596

Related Test

Name
PGxome®
Early Infantile Epileptic Encephalopathy Panel

Citations

  • Allen et al. 2013. PubMed ID: 23934111
  • Bagci et al. 2007. PubMed ID: 18296573
  • Baldassari et al. 2016. PubMed ID: 27208208
  • Bennett et al. 2009. PubMed ID: 19128417
  • Bodamer et al. 2009. PubMed ID: 19255414
  • Boerma et al. 2016. PubMed ID: 26252990
  • Carvill et al. 2014. PubMed ID: 24623842
  • Chou et al. 2014. PubMed ID: 25520928
  • Darin et al. 2016. PubMed ID: 27912044
  • de Kovel et al. 2016. PubMed ID: 27652284
  • Della Mina et al. 2015. PubMed ID: 24848745
  • Dibbens et al. 2013. PubMed ID: 23542697
  • Dilena et al. 2016. PubMed ID: 26212315
  • Fisher et al. 2017. PubMed ID: 28276064
  • Hamdan et al. 2017. PubMed ID: 29100083
  • Hildebrand et al. 2016. PubMed ID: 27029629
  • Hirtz et al. 2007. PubMed ID: 17261678
  • Human Gene Mutation Database (Biobase).
  • Hynynen et al. 2014. PubMed ID: 25065347
  • Koch et al. 2017. PubMed ID: 28007989
  • Kullmann. 2002. PubMed ID: 12023309
  • Kurahashi and Hirose. 2015. PubMed ID: 20301348
  • Leen et al. 2010. PubMed ID: 20129935
  • Li et al. 2016. PubMed ID: 27616483
  • Mikati et al. 2015. PubMed ID: 26369628
  • Miller and Sotero de Menezes. 2007. PubMed ID: 20301494
  • Musto et al. 2020. PubMed ID: 31889633
  • Myers and Scheffer 2017. PubMed ID: 28406046
  • Møller et al. 2016. PubMed ID: 27781031
  • Oyarzabal et al. 2016. PubMed ID: 26809120
  • Palavra et al. 2017. PubMed ID: 28386314
  • Picard et al. 2014. PubMed ID: 24814846
  • Pierson et al 2014. PubMed ID: 24839611
  • Platzer et al 2017. PubMed ID: 28377535
  • Ream and Mikati. 2014. PubMed ID: 25108116
  • Reif et al. 2017. PubMed ID: 27781560
  • Ricos et al. 2016. PubMed ID: 26505888
  • Sands et al. 2016. PubMed ID: 27888506
  • Scheffer et al. 2017. PubMed ID: 28276062
  • Steinfeld et al. 2009. PubMed ID: 19732866
  • Tabarki et al. 2013. PubMed ID: 23269594
  • Trivisano et al. 2015. PubMed ID: 25510386
  • von Spiczak et al. 2017. PubMed ID: 28667181
  • Wang et al. 2014. PubMed ID: 24818677
  • Wilmshurst et al. 2015. PubMed ID: 26122601
  • Wolff et al. 2017. PubMed ID: 28379373

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

Disease Resources

loading Loading... ×

ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Total Price: $
×
Copy Text to Clipboard
×