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 GenesGene CPT Codes Copy CPT Codes
7957 ABAT81479,81479 Add to Order
ADSL81479,81479
ALDH5A181479,81479
ALDH7A181406,81479
ALG1381479,81479
AMT81479,81479
ANKRD1181479,81479
AP3B281479,81479
ARHGEF1581479,81479
ARHGEF981479,81479
ARID1B81479,81479
ARV181479,81479
ARX81404,81403
ATP1A281406,81479
ATP1A381479,81479
ATP6AP281479,81479
ATRX81479,81479
BCKDK81479,81479
BRAT181479,81479
C12orf5781479,81479
CACNA1A81185,81479
CACNA1H81479,81479
CACNA2D281479,81479
CACNB481479,81479
CAD81479,81479
CARS281479,81479
CASK81479,81479
CASR81405,81479
CBL81479,81479
CDKL581406,81405
CERS181479,81479
CHD281479,81479
CHRNA281479,81479
CHRNA481405,81479
CHRNB281405,81479
CLCN481479,81479
CLN381479,81479
CLN581479,81479
CLN681479,81479
CLN881479,81479
CLTC81479,81479
CNTN281479,81479
CNTNAP281406,81479
COL4A181408,81479
COQ481479,81479
CPA681479,81479
CSTB81189,81479
CTSD81479,81479
DDX3X81479,81479
DENND5A81479,81479
DEPDC581479,81479
DHDDS81479,81479
DIAPH181479,81479
DNAJC581479,81479
DNM181479,81479
DNMT3A81479,81479
DOCK781479,81479
DYRK1A81479,81479
EEF1A281479,81479
EFHC181479,81479
EHMT181479,81479
EPM2A81404,81479
FARS281479,81479
FASN81479,81479
FGF1281479,81479
FLNA81479,81479
FOLR181479,81479
FOXG181404,81479
FRRS1L81479,81479
GABBR281479,81479
GABRA181479,81479
GABRB181479,81479
GABRB281479,81479
GABRB381479,81479
GABRD81479,81479
GABRG281405,81479
GAL81479,81479
GAMT81479,81479
GATM81479,81479
GCSH81479,81479
GLDC81479,81479
GLRA181479,81479
GNAO181479,81479
GOSR281479,81479
GPHN81479,81479
GRIN181479,81479
GRIN2A81479,81479
GRIN2B81479,81479
GRIN2D81479,81479
GUF181479,81479
HCN181479,81479
HCN281479,81479
HECW281479,81479
HIVEP281479,81479
HNRNPU81479,81479
IER3IP181479,81479
IQSEC281479,81479
ITPA81479,81479
JMJD1C81479,81479
KANSL181479,81479
KCNA181479,81479
KCNA281479,81479
KCNB181479,81479
KCNC181479,81479
KCND281479,81479
KCNH181479,81479
KCNH281406,81479
KCNH581479,81479
KCNJ1081404,81479
KCNMA181479,81479
KCNQ281406,81479
KCNQ381479,81479
KCNT181479,81479
KCTD781479,81479
KPNA781479,81479
LGI181479,81479
LIAS81479,81479
LMNB281479,81479
MBD581479,81479
MDH281479,81479
MECP281302,81304
MEF2C81479,81479
MFSD881479,81479
MTOR81479,81479
NAGA81479,81479
NECAP181479,81479
NEDD4L81479,81479
NEXMIF81479,81479
NF181408,81479
NGLY181479,81479
NHLRC181403,81479
NPRL281479,81479
NPRL381479,81479
NRXN181479,81479
NTRK281479,81479
NUS181479,81479
PACS181479,81479
PCDH1981405,81479
PIGA81479,81479
PIGG81479,81479
PIGN81479,81479
PIGO81479,81479
PIGP81479,81479
PIGQ81479,81479
PIK3AP181479,81479
PLCB181479,81479
PLPBP81479,81479
PNKD81406,81479
PNKP81479,81479
PNPO81479,81479
POLG81406,81479
PPP2R1A81479,81479
PPP3CA81479,81479
PPT181479,81479
PRDM881479,81479
PRICKLE181479,81479
PRICKLE281479,81479
PRIMA181479,81479
PRRT281479,81479
PTEN81321,81323
PURA81479,81479
QARS81479,81479
RAB11A81479,81479
RANBP281479,81479
RBFOX181479,81479
RBFOX381479,81479
RELN81479,81479
ROGDI81479,81479
RORB81479,81479
RYR381479,81479
SATB281479,81479
SCARB281479,81479
SCN1A81407,81479
SCN1B81404,81479
SCN2A81479,81479
SCN3A81479,81479
SCN5A81407,81479
SCN8A81479,81479
SCN9A81479,81479
SERPINI181479,81479
SETD281479,81479
SGCE81406,81405
SLC12A581479,81479
SLC13A581479,81479
SLC19A381479,81479
SLC25A1281479,81479
SLC25A2281479,81479
SLC2A181405,81479
SLC35A281479,81479
SLC35A381479,81479
SLC6A181479,81479
SLC6A881479,81479
SLC9A681406,81479
SMC1A81479,81479
SNAP2581479,81479
SNX2781479,81479
SPATA581479,81479
SPTAN181479,81479
SRPX281479,81479
ST3GAL381479,81479
ST3GAL581479,81479
STRADA81479,81479
STX1B81479,81479
STXBP181406,81479
SYN181479,81479
SYNGAP181479,81479
SYNJ181479,81479
SZT281479,81479
TBC1D2481479,81479
TBL1XR181479,81479
TCF481406,81405
TPK181479,81479
TPP181479,81479
TSC181406,81405
TSC281407,81406
UBA581479,81479
UBE3A81406,81479
WDR4581479,81479
WWOX81479,81479
YWHAG81479,81479
ZDHHC981479,81479
ZEB281405,81404
Test Code Test Copy Genes Total Price Panel CPT Code Gene CPT Codes Copy CPT Code STAT
7957 Genes x (222) $790 81479 81185, 81189, 81302, 81304, 81321, 81323, 81403, 81404, 81405, 81406, 81407, 81408, 81479 Add to Order

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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

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

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Epilepsy is a highly heterogeneous disorder, with great variation in the age of onset, etiology, type of seizures, developmental outcome, EEG and image findings (MRI, etc), response to medication, and a wide range of comorbidities. Genetic epilepsy has a wide phenotypic spectrum, ranging from mild seizure disorders in patients with normal cognition to severe early-onset epileptic encephalopathies associated with severe developmental delay and intellectual disability. The etiology of epilepsy includes structural, genetic, infectious, metabolic, immune and unknown causes. Seizures are classified into focal onset, generalized onset, and unknown onset, while epilepsy is divided into focal, generalized, combined generalized and unknown type. An epilepsy syndrome refers to a cluster of features incorporating seizure types, together with EEG, and imaging findings (Sharma and Prasad. 2013. PubMed ID: 23250121; Wilmshurst et al. 2015. PubMed ID: 26122601; Scheffer et al. 2017. PubMed ID: 28276062; Fisher et al. 2017. PubMed ID: 28276064). Epileptic encephalopathy was recently redefined as epileptic activity itself contributing to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone. Epileptic encephalopathy can also be applied to single gene disorders, for example, CDKL5 encephalopathy and CHD2 encephalopathy. Certain disorders have been reported to be associated with developmental and epileptic encephalopathy (Scheffer et al. 2017. PubMed ID: 28276062; Hamdan et al. 2017. PubMed ID: 29100083).

Genetics

This panel covers numerous well-characterized genes causative for epilepsy syndromes and non-syndromic epilepsy genes, as well as newly recognized developmental epileptic encephalopathies-related genes (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).

Importantly, this panel also covers following genes which are related to epilepsy treatment:

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

The genetic etiology of the different epilepsies is extremely heterogeneous, ranging from monogenic causes with little or no influence from modifiers or environmental factors to genetically complex forms involving multiple genes, modifier genes and environmental factors. Epilepsy/seizure disorders can be inherited in an autosomal dominant, autosomal recessive, X-linked manner or by complex inheritance. Many epilepsy/seizure cases are sporadic, occurring in families with no prior history. Sporadic cases of epilepsy/seizure are commonly caused by dominant, de novo pathogenic variants in epilepsy-related genes (Allen et al. 2013. PubMed ID: 23934111; Møller et al. 2016. PubMed ID: 27781031; Wilfert et al. 2017. PubMed ID: 29179772; Scheffer et al. 2017. PubMed ID: 28276062; Fisher et al. 2017. PubMed ID: 28276064). Mosaicism may affect the severity of epilepsy, and a genetic etiology does not exclude an environmental contribution (Scheffer et al. 2017. PubMed ID: 28276062).

See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Testing Strategy

This panel typically provides 99.6% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing.

Clinical Sensitivity - Sequencing and CNV

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 of patients with early infantile epileptic encephalopathy, we predict that this panel will identify pathogenic variants in about 37% of early infantile epileptic encephalopathy cases with unknown cause (Lemke et al. 2012. PubMed ID: 22612257; Wang al. 2014. PubMed ID: 24818677; Ream and Mikati. 2014. PubMed ID: 25108116). This panel should identify pathogenic variants more than 90% in Dravet syndrome patients (Carvill et al. 2014. PubMed ID: 24623842).

Indications for Test

Patients with symptoms suggestive of epilepsy and seizures with or without developmental epileptic encephalopathies are candidates for this test.

Genes

Official Gene Symbol OMIM ID
ABAT 137150
ADSL 608222
ALDH5A1 610045
ALDH7A1 107323
ALG13 300776
AMT 238310
ANKRD11 611192
AP3B2 602166
ARHGEF15 608504
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
CBL 165360
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
DNMT3A 602769
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
GAL 137035
GAMT 601240
GATM 602360
GCSH 238330
GLDC 238300
GLRA1 138491
GNAO1 139311
GOSR2 604027
GPHN 603930
GRIN1 138249
GRIN2A 138253
GRIN2B 138252
GRIN2D 602717
GUF1 617064
HCN1 602780
HCN2 602781
HECW2 617245
HIVEP2 143054
HNRNPU 602869
IER3IP1 609382
IQSEC2 300522
ITPA 147520
JMJD1C 604503
KANSL1 612452
KCNA1 176260
KCNA2 176262
KCNB1 600397
KCNC1 176258
KCND2 605410
KCNH1 603305
KCNH2 152427
KCNH5 605716
KCNJ10 602208
KCNMA1 600150
KCNQ2 602235
KCNQ3 602232
KCNT1 608167
KCTD7 611725
KPNA7 614107
LGI1 604619
LIAS 607031
LMNB2 150341
MBD5 611472
MDH2 154100
MECP2 300005
MEF2C 600662
MFSD8 611124
MTOR 601231
NAGA 104170
NECAP1 611623
NEDD4L 606384
NEXMIF 300524
NF1 613113
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
PIK3AP1 607942
PLCB1 607120
PLPBP 604436
PNKD 609023
PNKP 605610
PNPO 603287
POLG 174763
PPP2R1A 605983
PPP3CA 114105
PPT1 600722
PRDM8 616639
PRICKLE1 608500
PRICKLE2 608501
PRIMA1 613851
PRRT2 614386
PTEN 601728
PURA 600473
QARS 603727
RAB11A 605570
RANBP2 601181
RBFOX1 605104
RBFOX3 616999
RELN 600514
ROGDI 614574
RORB 601972
RYR3 180903
SATB2 608148
SCARB2 602257
SCN1A 182389
SCN1B 600235
SCN2A 182390
SCN3A 182391
SCN5A 600163
SCN8A 600702
SCN9A 603415
SERPINI1 602445
SETD2 612778
SGCE 604149
SLC12A5 606726
SLC13A5 608305
SLC19A3 606152
SLC25A12 603667
SLC25A22 609302
SLC2A1 138140
SLC35A2 314375
SLC35A3 605632
SLC6A1 137165
SLC6A8 300036
SLC9A6 300231
SMC1A 300040
SNAP25 600322
SNX27 611541
SPATA5 613940
SPTAN1 182810
SRPX2 300642
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
ZDHHC9 300646
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 2 AD 614820
Amish Infantile Epilepsy Syndrome AR 609056
Angelman Syndrome 105830
Arthrogryposis, Mental Retardation, and Seizures AR 615553
Basal Ganglia Disease, Biotin-Responsive AR 607483
Branched-chain ketoacid dehydrogenase kinase deficiency AR 614923
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 2 AR 204500
Ceroid Lipofuscinosis Neuronal 3 AR 204200
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, Northern Epilepsy Variant AR 610003
Chromosome 9Q Deletion Syndrome AD 610253
Coenzyme Q10 Deficiency, Primary, 7 AR 616276
Coffin-Siris Syndrome 1 AD 135900
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
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis AD 602066
Cornelia de Lange syndrome 2 XL 300590
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Cowden Disease AD 158350
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Developmental Delay and Seizures with or without Movement Abnormalities AD 617836
Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To AD 608033
Epilepsy Juvenile Absence AD 607631
Epilepsy, Childhood Absence 6 611942
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 Temporal Lobe, 5 AR 614417
Epilepsy, Familial Temporal Lobe, 7 AD 616436
Epilepsy, Familial Temporal Lobe, 8 AD 616461
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 8 AD 612899
Epilepsy, Idiopathic Generalized 9 AD 607682
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 AD 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, 10 AR 616640
Epilepsy, Progressive Myoclonic, 8 AR 616230
Epilepsy, Progressive Myoclonic, 9 AR 616540
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, 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, 4 AD 612164
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, 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, 8 XL 300607
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
Familial Encephalopathy With Neuroserpin Inclusion Bodies AD 604218
Familial Hemiplegic Migraine Type 2 AD 602481
FG Syndrome 4 XL 300422
Focal Cortical Dysplasia Of Taylor AD 607341
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 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 2 AD 612126
Glycine Encephalopathy AR 605899
Hyperekplexia Hereditary AR 149400
Hyperphosphatasia with mental retardation syndrome 2 AR 614749
KBG Syndrome AD 148050
Kohlschutter-Tonz syndrome AR 226750
Koolen-De Vries Syndrome AD 610443
Lafora Disease AR 254780
Long QT Syndrome 2 AD 613688
Luscan-Lumish Syndrome AD 616831
Mental Retardation, Autosomal Dominant 1 AD 156200
Mental Retardation, Autosomal Dominant 31 AD 616158
Mental Retardation, Autosomal Dominant 36 AD 616362
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 7 AD 614104
Mental Retardation, Autosomal Dominant 8 AD 614254
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, Christianson Type XL 300243
Mental Retardation, X-Linked, Syndromic, Hedera Type AR 300423
Mental Retardation, X-Linked, Syndromic, Raymond Type XL 300799
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Microcephaly, Epilepsy, And Diabetes Syndrome AR 614231
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy AR 615760
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 Dystonia AD 159900
Myoclonic-Atonic Epilepsy AD 616421
Neurodegeneration With Brain Iron Accumulation 5 AD 300894
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language AD 617268
Neurofibromatosis, Type 1 AD 162200
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia AD 613563
Paroxysmal Choreoathetosis AD 118800
Periventricular Nodular Heterotopia 7 AD 617201
Pitt-Hopkins Syndrome AD 610954
Pitt-Hopkins-like syndrome 2 AR 614325
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy AR 611087
Porencephaly 1 AD 175780
Progressive Myoclonus Epilepsy With Ataxia AR 612437
Progressive Sclerosing Poliodystrophy AR 203700
Pyridoxal 5'-Phosphate-Dependent Epilepsy AR 610090
Pyridoxine-Dependent Epilepsy AR 266100
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency AR 614462
Rett Syndrome XL 312750
Rett Syndrome, Congenital Variant AD 613454
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal AR 614498
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked XL 300643
Schindler Disease, Type 1 AR 609241
Schuurs-Hoeijmakers Syndrome AD 615009
Seizures, Benign Familial Neonatal, 2 AD 121201
Seizures, Cortical Blindness, Microcephaly Syndrome AR 616632
SeSAME Syndrome AR 612780
Succinate-Semialdehyde Dehydrogenase Deficiency AR 271980
Sudden Infant Death Syndrome AR 272120
Tatton-Brown-Rahman Syndrome AD 615879
Temple-Baraitser Syndrome AD 611816
Temtamy Syndrome AR 218340
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) AR 614458
Unverricht-Lundborg Syndrome AR 254800
X-Linked Periventricular Heterotopia XL 300049

Related Test

Name
PGxome®

Citations

  • Allen et al. 2013. PubMed ID: 23934111
  • Baldassari et al. 2016. PubMed ID: 27208208
  • Carvill et al. 2014. PubMed ID: 24623842
  • de Kovel et al. 2016. PubMed ID: 27652284
  • Fisher et al. 2017. PubMed ID: 28276064
  • Hamdan et al. 2017. PubMed ID: 29100083
  • Hildebrand et al. 2016. PubMed ID: 27029629
  • Lemke et al. 2012. PubMed ID: 22612257
  • Møller et al. 2016. PubMed ID: 27781031
  • Ream and Mikati. 2014. PubMed ID: 25108116
  • Ricos et al. 2016. PubMed ID: 26505888
  • Scheffer et al. 2017. PubMed ID: 28276062
  • Sharma and Prasad. 2013. PubMed ID: 23250121
  • von Spiczak et al. 2017. PubMed ID: 28667181
  • Wang et al. 2014. PubMed ID: 24818677
  • Wilfert et al. 2017. PubMed ID: 29179772
  • Wilmshurst et al. 2015. PubMed ID: 26122601

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