Comprehensive Epilepsy and Seizure Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5245 AARS1 81479,81479 Order Options and Pricing
ABAT 81479,81479
ABCD1 81405,81479
ACTL6B 81479,81479
ACY1 81479,81479
ADAM22 81479,81479
ADAR 81479,81479
ADGRG1 81479,81479
ADNP 81479,81479
ADPRS 81479,81479
ADSL 81479,81479
AIMP1 81479,81479
AKT3 81479,81479
ALDH5A1 81479,81479
ALDH7A1 81406,81479
ALG1 81479,81479
ALG13 81479,81479
ALG3 81479,81479
ALG6 81479,81479
ALG8 81479,81479
ALG9 81479,81479
AMACR 81479,81479
AMT 81479,81479
ANKRD11 81479,81479
AP2M1 81479,81479
AP3B2 81479,81479
ARFGEF2 81479,81479
ARG1 81479,81479
ARHGEF9 81479,81479
ARID1B 81479,81479
ARV1 81479,81479
ARX 81404,81403
ASAH1 81479,81479
ASNS 81479,81479
ASPA 81479,81479
ATP1A1 81479,81479
ATP1A2 81406,81479
ATP1A3 81479,81479
ATP6AP2 81479,81479
ATP6V0A2 81479,81479
ATP6V1A 81479,81479
ATRX 81479,81479
BCKDK 81479,81479
BCS1L 81405,81479
BOLA3 81479,81479
BRAF 81406,81479
BRAT1 81479,81479
BTD 81404,81479
C12orf57 81479,81479
CACNA1A 81185,81479
CACNA1B 81479,81479
CACNA1D 81479,81479
CACNA1E 81479,81479
CACNA1H 81479,81479
CACNA2D2 81479,81479
CACNB4 81479,81479
CAD 81479,81479
CARS2 81479,81479
CASK 81479,81479
CASR 81405,81479
CC2D2A 81479,81479
CDKL5 81406,81405
CERS1 81479,81479
CHD2 81479,81479
CHRNA2 81479,81479
CHRNA4 81405,81479
CHRNA7 81479,81479
CHRNB2 81405,81479
CIC 81479,81479
CILK1 81479,81479
CLCN2 81479,81479
CLCN4 81479,81479
CLN3 81479,81479
CLN5 81479,81479
CLN6 81479,81479
CLN8 81479,81479
CLTC 81479,81479
CNKSR2 81479,81479
CNPY3 81479,81479
CNTN2 81479,81479
CNTNAP2 81406,81479
COG7 81479,81479
COL18A1 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
COQ2 81479,81479
COQ4 81479,81479
COQ9 81479,81479
CPA6 81479,81479
CPLX1 81479,81479
CSNK2B 81479,81479
CSTB 81189,81479
CTSD 81479,81479
CTSF 81479,81479
CUL4B 81479,81479
CUX2 81479,81479
CYFIP2 81479,81479
D2HGDH 81479,81479
DCX 81405,81479
DDX3X 81479,81479
DEAF1 81479,81479
DEGS1 81479,81479
DENND5A 81479,81479
DEPDC5 81479,81479
DHCR7 81405,81479
DHDDS 81479,81479
DHPS 81479,81479
DIAPH1 81479,81479
DMXL2 81479,81479
DNAJC5 81479,81479
DNM1 81479,81479
DNM1L 81479,81479
DOCK7 81479,81479
DPAGT1 81479,81479
DPM1 81479,81479
DPYD 81479,81479
DYNC1H1 81479,81479
DYRK1A 81479,81479
EARS2 81479,81479
EEF1A2 81479,81479
EFHC1 81479,81479
EHMT1 81479,81479
EIF2B1 81479,81479
EIF2B2 81405,81479
EIF2B3 81406,81479
EIF2B4 81406,81479
EIF2B5 81406,81479
EIF3F 81479,81479
EML1 81479,81479
EPG5 81479,81479
EPM2A 81404,81479
ETHE1 81479,81479
FARS2 81479,81479
FASN 81479,81479
FDFT1 81479,81479
FGF12 81479,81479
FKTN 81405,81479
FLNA 81479,81479
FOLR1 81479,81479
FOXG1 81404,81479
FRRS1L 81479,81479
FUCA1 81479,81479
FUT8 81479,81479
GABBR2 81479,81479
GABRA1 81479,81479
GABRB1 81479,81479
GABRB2 81479,81479
GABRB3 81479,81479
GABRD 81479,81479
GABRG2 81405,81479
GALC 81479,81479
GAMT 81479,81479
GATM 81479,81479
GCSH 81479,81479
GFAP 81405,81479
GFM1 81479,81479
GLB1 81479,81479
GLDC 81479,81479
GLRA1 81479,81479
GLS 81479,81479
GLUD1 81406,81479
GM2A 81479,81479
GNAO1 81479,81479
GNB1 81479,81479
GOSR2 81479,81479
GPAA1 81479,81479
GPHN 81479,81479
GRIA3 81479,81479
GRIA4 81479,81479
GRIN1 81479,81479
GRIN2A 81479,81479
GRIN2B 81479,81479
GRIN2D 81479,81479
GRN 81406,81479
GUF1 81479,81479
HACE1 81479,81479
HCN1 81479,81479
HCN2 81479,81479
HECW2 81479,81479
HEPACAM 81479,81479
HEXA 81479,81479
HEXB 81479,81479
HIVEP2 81479,81479
HNRNPU 81479,81479
IER3IP1 81479,81479
IQSEC2 81479,81479
IRF2BPL 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
KCNJ11 81403,81479
KCNMA1 81479,81479
KCNQ2 81406,81479
KCNQ3 81479,81479
KCNQ5 81479,81479
KCNT1 81479,81479
KCNT2 81479,81479
KCTD3 81479,81479
KCTD7 81479,81479
KDM5C 81407,81479
KIF1A 81479,81479
KIF5C 81479,81479
KMT2E 81479,81479
KPNA7 81479,81479
KPTN 81479,81479
LGI1 81479,81479
LIAS 81479,81479
MACF1 81479,81479
MAGI2 81479,81479
MAP2K1 81406,81479
MAP2K2 81406,81479
MBD5 81479,81479
MBOAT7 81479,81479
MDH2 81479,81479
MECP2 81302,81304
MED12 81479,81479
MED17 81479,81479
MEF2C 81479,81479
MFSD8 81479,81479
MLC1 81479,81479
MOCS1 81479,81479
MOCS2 81479,81479
MOGS 81479,81479
MPDU1 81479,81479
MTHFR 81479,81479
MTOR 81479,81479
NACC1 81479,81479
NAGA 81479,81479
NALCN 81479,81479
NBEA 81479,81479
NDE1 81479,81479
NDUFA1 81404,81479
NDUFAF5 81479,81479
NDUFS4 81404,81479
NDUFS8 81405,81479
NDUFV1 81405,81479
NECAP1 81479,81479
NEDD4L 81479,81479
NEUROD2 81479,81479
NEXMIF 81479,81479
NGLY1 81479,81479
NHLRC1 81403,81479
NPRL2 81479,81479
NPRL3 81479,81479
NRXN1 81479,81479
NSD1 81406,81405
NSDHL 81479,81479
NTRK2 81479,81479
NUS1 81479,81479
OCLN 81479,81479
OPHN1 81479,81479
OSGEP 81479,81479
PACS1 81479,81479
PACS2 81479,81479
PAFAH1B1 81406,81405
PCDH19 81405,81479
PEX1 81479,81479
PEX10 81479,81479
PEX12 81479,81479
PEX2 81479,81479
PEX3 81479,81479
PEX6 81479,81479
PHACTR1 81479,81479
PHGDH 81479,81479
PIGA 81479,81479
PIGG 81479,81479
PIGN 81479,81479
PIGO 81479,81479
PIGP 81479,81479
PIGQ 81479,81479
PIGT 81479,81479
PIGV 81479,81479
PIGW 81479,81479
PLAA 81479,81479
PLCB1 81479,81479
PLPBP 81479,81479
PNKP 81479,81479
PNPO 81479,81479
POLG 81406,81479
POMT1 81406,81479
PPP2CA 81479,81479
PPP3CA 81479,81479
PPT1 81479,81479
PRICKLE1 81479,81479
PRICKLE2 81479,81479
PRMT7 81479,81479
PRRT2 81479,81479
PSAP 81479,81479
PSAT1 81479,81479
PSPH 81479,81479
PTEN 81321,81323
PURA 81479,81479
QARS1 81479,81479
RAB39B 81479,81479
RBFOX1 81479,81479
RBFOX3 81479,81479
RELN 81479,81479
RHOBTB2 81479,81479
RNASEH2A 81479,81479
RNASEH2B 81479,81479
RNASEH2C 81479,81479
RNF13 81479,81479
ROGDI 81479,81479
RORB 81479,81479
RTTN 81479,81479
SAMHD1 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
SETBP1 81479,81479
SETD1B 81479,81479
SLC12A5 81479,81479
SLC13A5 81479,81479
SLC19A3 81479,81479
SLC1A2 81479,81479
SLC25A12 81479,81479
SLC25A22 81479,81479
SLC2A1 81405,81479
SLC35A2 81479,81479
SLC6A1 81479,81479
SLC6A8 81479,81479
SLC9A6 81406,81479
SMARCA2 81479,81479
SMC1A 81479,81479
SMS 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
SUOX 81479,81479
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
TRAPPC6B 81479,81479
TREX1 81479,81479
TSC1 81406,81405
TSC2 81407,81406
TUBA1A 81479,81479
TUBA8 81479,81479
TUBB2A 81479,81479
TUBB2B 81479,81479
TUBB3 81479,81479
TUBG1 81479,81479
UBA5 81479,81479
UBE2A 81479,81479
UBE3A 81406,81479
UBTF 81479,81479
UNC80 81479,81479
WASF1 81479,81479
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
5245Genes x (374)81479 81185, 81189, 81302, 81304, 81321, 81323, 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1490 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. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

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 with consistent expressivity (>50% of cases) and/or where seizure onset is an early indication of disease. This panel also includes genes which have only been associated with epilepsy in a small number of cases, indicating that they are ultra-rare causes of disease or that the gene/disease association is not yet definitively established. 

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 recurrent 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 seizure (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 more than 300 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, CTSF, and KCTD7

Lafora Disease : EPM2A and NHLRC1

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

Mitochondrial Disease: POLG, FARS2, and SLC25A22

Cortical dysplasia, complex, with other brain malformations: TUBA8, TUBB2A, TUBB2B, TUBB3, and TUBG1

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

 

Gene Name Inheritance Mode Epilepsy 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 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 PGxome

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 99.2% 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Testing is recommended for patients with syndromic or non-syndromic epilepsy and where a genetic predisposition is suspected. This test is especially appropriate when sequential exome testing may be desired. 

Genes

Official Gene Symbol OMIM ID
AARS1 601065
ABAT 137150
ABCD1 300371
ACTL6B 612458
ACY1 104620
ADAM22 603709
ADAR 146920
ADGRG1 604110
ADNP 611386
ADPRS 610624
ADSL 608222
AIMP1 603605
AKT3 611223
ALDH5A1 610045
ALDH7A1 107323
ALG1 605907
ALG13 300776
ALG3 608750
ALG6 604566
ALG8 608103
ALG9 606941
AMACR 604489
AMT 238310
ANKRD11 611192
AP2M1 601024
AP3B2 602166
ARFGEF2 605371
ARG1 608313
ARHGEF9 300429
ARID1B 614556
ARV1 611647
ARX 300382
ASAH1 613468
ASNS 108370
ASPA 608034
ATP1A1 182310
ATP1A2 182340
ATP1A3 182350
ATP6AP2 300556
ATP6V0A2 611716
ATP6V1A 607027
ATRX 300032
BCKDK 614901
BCS1L 603647
BOLA3 613183
BRAF 164757
BRAT1 614506
BTD 609019
C12orf57 615140
CACNA1A 601011
CACNA1B 601012
CACNA1D 114206
CACNA1E 601013
CACNA1H 607904
CACNA2D2 607082
CACNB4 601949
CAD 114010
CARS2 612800
CASK 300172
CASR 601199
CC2D2A 612013
CDKL5 300203
CERS1 606919
CHD2 602119
CHRNA2 118502
CHRNA4 118504
CHRNA7 118511
CHRNB2 118507
CIC 612082
CILK1 612325
CLCN2 600570
CLCN4 302910
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
CLTC 118955
CNKSR2 300724
CNPY3 610774
CNTN2 190197
CNTNAP2 604569
COG7 606978
COL18A1 120328
COL4A1 120130
COL4A2 120090
COQ2 609825
COQ4 612898
COQ9 612837
CPA6 609562
CPLX1 605032
CSNK2B 115441
CSTB 601145
CTSD 116840
CTSF 603539
CUL4B 300304
CUX2 610648
CYFIP2 606323
D2HGDH 609186
DCX 300121
DDX3X 300160
DEAF1 602635
DEGS1 615843
DENND5A 617278
DEPDC5 614191
DHCR7 602858
DHDDS 608172
DHPS 600944
DIAPH1 602121
DMXL2 612186
DNAJC5 611203
DNM1 602377
DNM1L 603850
DOCK7 615730
DPAGT1 191350
DPM1 603503
DPYD 612779
DYNC1H1 600112
DYRK1A 600855
EARS2 612799
EEF1A2 602959
EFHC1 608815
EHMT1 607001
EIF2B1 606686
EIF2B2 606454
EIF2B3 606273
EIF2B4 606687
EIF2B5 603945
EIF3F 603914
EML1 602033
EPG5 615068
EPM2A 607566
ETHE1 608451
FARS2 611592
FASN 600212
FDFT1 184420
FGF12 601513
FKTN 607440
FLNA 300017
FOLR1 136430
FOXG1 164874
FRRS1L 604574
FUCA1 612280
FUT8 602589
GABBR2 607340
GABRA1 137160
GABRB1 137190
GABRB2 600232
GABRB3 137192
GABRD 137163
GABRG2 137164
GALC 606890
GAMT 601240
GATM 602360
GCSH 238330
GFAP 137780
GFM1 606639
GLB1 611458
GLDC 238300
GLRA1 138491
GLS 138280
GLUD1 138130
GM2A 613109
GNAO1 139311
GNB1 139380
GOSR2 604027
GPAA1 603048
GPHN 603930
GRIA3 305915
GRIA4 138246
GRIN1 138249
GRIN2A 138253
GRIN2B 138252
GRIN2D 602717
GRN 138945
GUF1 617064
HACE1 610876
HCN1 602780
HCN2 602781
HECW2 617245
HEPACAM 611642
HEXA 606869
HEXB 606873
HIVEP2 143054
HNRNPU 602869
IER3IP1 609382
IQSEC2 300522
IRF2BPL 611720
ITPA 147520
KANSL1 612452
KCNA1 176260
KCNA2 176262
KCNB1 600397
KCNC1 176258
KCNH1 603305
KCNJ10 602208
KCNJ11 600937
KCNMA1 600150
KCNQ2 602235
KCNQ3 602232
KCNQ5 607357
KCNT1 608167
KCNT2 610044
KCTD3 613272
KCTD7 611725
KDM5C 314690
KIF1A 601255
KIF5C 604593
KMT2E 608444
KPNA7 614107
KPTN 615620
LGI1 604619
LIAS 607031
MACF1 608271
MAGI2 606382
MAP2K1 176872
MAP2K2 601263
MBD5 611472
MBOAT7 606048
MDH2 154100
MECP2 300005
MED12 300188
MED17 603810
MEF2C 600662
MFSD8 611124
MLC1 605908
MOCS1 603707
MOCS2 603708
MOGS 601336
MPDU1 604041
MTHFR 607093
MTOR 601231
NACC1 610672
NAGA 104170
NALCN 611549
NBEA 604889
NDE1 609449
NDUFA1 300078
NDUFAF5 612360
NDUFS4 602694
NDUFS8 602141
NDUFV1 161015
NECAP1 611623
NEDD4L 606384
NEUROD2 601725
NEXMIF 300524
NGLY1 610661
NHLRC1 608072
NPRL2 607072
NPRL3 600928
NRXN1 600565
NSD1 606681
NSDHL 300275
NTRK2 600456
NUS1 610463
OCLN 602876
OPHN1 300127
OSGEP 610107
PACS1 607492
PACS2 610423
PAFAH1B1 601545
PCDH19 300460
PEX1 602136
PEX10 602859
PEX12 601758
PEX2 170993
PEX3 603164
PEX6 601498
PHACTR1 608723
PHGDH 606879
PIGA 311770
PIGG 616918
PIGN 606097
PIGO 614730
PIGP 605938
PIGQ 605754
PIGT 610272
PIGV 610274
PIGW 610275
PLAA 603873
PLCB1 607120
PLPBP 604436
PNKP 605610
PNPO 603287
POLG 174763
POMT1 607423
PPP2CA 176915
PPP3CA 114105
PPT1 600722
PRICKLE1 608500
PRICKLE2 608501
PRMT7 610087
PRRT2 614386
PSAP 176801
PSAT1 610936
PSPH 172480
PTEN 601728
PURA 600473
QARS1 603727
RAB39B 300774
RBFOX1 605104
RBFOX3 616999
RELN 600514
RHOBTB2 607352
RNASEH2A 606034
RNASEH2B 610326
RNASEH2C 610330
RNF13 609247
ROGDI 614574
RORB 601972
RTTN 610436
SAMHD1 606754
SATB2 608148
SCARB2 602257
SCN1A 182389
SCN1B 600235
SCN2A 182390
SCN3A 182391
SCN8A 600702
SCN9A 603415
SERPINI1 602445
SETBP1 611060
SETD1B 611055
SLC12A5 606726
SLC13A5 608305
SLC19A3 606152
SLC1A2 600300
SLC25A12 603667
SLC25A22 609302
SLC2A1 138140
SLC35A2 314375
SLC6A1 137165
SLC6A8 300036
SLC9A6 300231
SMARCA2 600014
SMC1A 300040
SMS 300105
SNAP25 600322
SPATA5 613940
SPTAN1 182810
ST3GAL3 606494
ST3GAL5 604402
STRADA 608626
STX1B 601485
STXBP1 602926
SUOX 606887
SYN1 313440
SYNGAP1 603384
SYNJ1 604297
SZT2 615463
TBC1D24 613577
TBL1XR1 608628
TCF4 602272
TPK1 606370
TPP1 607998
TRAPPC6B 610397
TREX1 606609
TSC1 605284
TSC2 191092
TUBA1A 602529
TUBA8 605742
TUBB2A 615101
TUBB2B 612850
TUBB3 602661
TUBG1 191135
UBA5 610552
UBE2A 312180
UBE3A 601623
UBTF 600673
UNC80 612636
WASF1 605035
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
Adrenoleukodystrophy XL 300100
AGAT Deficiency AR 612718
Aicardi-Goutieres Syndrome 1 AD 225750
Aicardi-Goutieres Syndrome 2 AR 610181
Aicardi-Goutieres Syndrome 3 AR 610329
Aicardi-Goutieres Syndrome 4 AR 610333
Aicardi-Goutieres Syndrome 5 AR 612952
Aicardi-Goutieres Syndrome 6 AR 615010
Alexander Disease AD 203450
Alpha-Methylacyl-CoA Racemase Deficiency AR 614307
Alternating Hemiplegia Of Childhood AD 104290
Alternating Hemiplegia of Childhood 2 AD 614820
Aminoacylase 1 Deficiency AR 609924
Amish Infantile Epilepsy Syndrome AR 609056
Angelman Syndrome AD 105830
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Arginase Deficiency AR 207800
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development AD 618265
Asparagine synthetase deficiency AR 615574
ATR-X Syndrome XL 301040
Band Heterotopia AR 600348
Basal Ganglia Disease, Biotin-Responsive AR 607483
Benign Familial Neonatal Seizures 1 AD 121200
Benign Familial Neonatal-Infantile Seizures AD 607745
Bile Acid Synthesis Defect, Congenital, 4 AR 214950
Bjornstad Syndrome AR 262000
Branched-chain ketoacid dehydrogenase kinase deficiency 614923
CAPOS syndrome AD 601338
Cardio-Facio-Cutaneous Syndrome AD 115150
Cardiofaciocutaneous syndrome 3 AD 615279
Cardiofaciocutaneous syndrome 4 AD 615280
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 13 AR 615362
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, Axonal, Type 2O AD 614228
Child Syndrome XL 308050
Chromosome 9Q Deletion Syndrome AD 610253
CK syndrome XL 300831
COACH Syndrome AR 216360
Coenzyme Q10 Deficiency AR 607426
Coenzyme Q10 Deficiency, Primary, 5 AR 614654
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 1 AR 609060
Combined Oxidative Phosphorylation Deficiency 12 AR 614924
Combined oxidative phosphorylation deficiency 14 AR 614946
Combined Oxidative Phosphorylation Deficiency 27 AR 616672
Combined Saposin Deficiency AR 611721
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay AD 616266
Congenital Disorder of Deglycosylation AR 615273
Congenital Disorder Of Glycosylation Type 1C AR 603147
Congenital Disorder Of Glycosylation Type 1D AR 601110
Congenital Disorder Of Glycosylation Type 1E AR 608799
Congenital Disorder Of Glycosylation Type 1F AR 609180
Congenital Disorder Of Glycosylation Type 1H AR 608104
Congenital Disorder Of Glycosylation Type 1J AR 608093
Congenital Disorder Of Glycosylation Type 1K AR 608540
Congenital Disorder Of Glycosylation Type 1L AR 608776
Congenital Disorder Of Glycosylation Type 2E AR 608779
Congenital Disorder Of Glycosylation Type IIb AR 606056
Congenital Disorder of Glycosylation Type IIm XL 300896
Congenital disorder of glycosylation with defective fucosylation 1 AR 618005
Congenital disorder of glycosylation, type 1aa AR 617082
Congenital disorder of glycosylation, type IIr XL 301045
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis AD 602066
Cornelia de Lange syndrome 2 XL 300590
Cortical Dysplasia, Complex, With Other Brain Malformations AD 614039
Cortical dysplasia, complex, with other brain malformations 2 AD 615282
Cortical Dysplasia, Complex, with other Brain Malformations 4 AD 615412
Cortical Dysplasia, Complex, with other Brain Malformations 5 AD 615763
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Cowden Disease AD 158350
Cutis Laxa, Autosomal Recessive, Type IIA AR 219200
Cutis Laxa, Autosomal Recessive, Type IID AR 617403
D-2-Alpha Hydroxyglutaric Aciduria AR 600721
Deafness, Autosomal Dominant 1 AD 124900
Deafness, autosomal dominant 71 AD 617605
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Developmental and Epileptic Encephalopathy 4 AD 612164
Developmental Delay and Seizures with or without Movement Abnormalities AD 617836
Diabetes, permanent neonatal 2, with or without neurologic features 618856
Dihydropyrimidine Dehydrogenase Deficiency AR 274270
DOOR syndrome AR 220500
Dyskinesia, Seizures, and Intellectual Developmental Disorder AR 617171
Dystonia 12 AD 128235
Dystonia 9 AD 601042
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission AR 614388
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations XL 300673
Epilepsy Juvenile Absence AD 607631
Epilepsy, Childhood Absence 2 AD 607681
Epilepsy, Childhood Absence 5 612269
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 focal, with variable foci 4 AD 617935
Epilepsy, Familial Temporal Lobe, 5 AD 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 8 612899
Epilepsy, Idiopathic Generalized 9 AD 607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 AD 607628
Epilepsy, idiopathic generalized, susceptibility to, 14 AD 616685
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 AD 614847
Epilepsy, Juvenile Myoclonic 5 611136
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, 41 AD 617105
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, 57 AD 617771
Epileptic Encephalopathy, Early Infantile, 58 AD 617830
Epileptic Encephalopathy, Early Infantile, 59 AD 617904
Epileptic encephalopathy, early infantile, 60 AR 617929
Epileptic encephalopathy, early infantile, 61 AR 617933
Epileptic Encephalopathy, Early Infantile, 62 AD 617938
Epileptic encephalopathy, early infantile, 63 AR 617976
Epileptic encephalopathy, early infantile, 64 AD 618004
Epileptic encephalopathy, early infantile, 65 AD 618008
Epileptic encephalopathy, early infantile, 66 AD 618067
Epileptic encephalopathy, early infantile, 67 AD 618141
Epileptic encephalopathy, early infantile, 69 AD 618285
Epileptic Encephalopathy, Early Infantile, 7 AD 613720
Epileptic encephalopathy, early infantile, 70 AD 618298
Epileptic encephalopathy, early infantile, 71 AR 618328
Epileptic encephalopathy, early infantile, 72 AD 618374
Epileptic encephalopathy, early infantile, 73 AD 618379
Epileptic encephalopathy, early infantile, 74 AD 618396
Epileptic encephalopathy, early infantile, 76 AR 618468
Epileptic encephalopathy, early infantile, 77 AR 618548
Epileptic Encephalopathy, Early Infantile, 8 XL 300607
Epileptic encephalopathy, early infantile, 81 AR 618663
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
Epileptic Encephalopathy, Infantile or Early Childhood, 3 AD 618012
Episodic Ataxia Type 1 AD 160120
Episodic Ataxia Type 2 AD 108500
Episodic Ataxia, Type 5 AD 613855
Episodic Kinesigenic Dyskinesia 1 AD 128200
Ethylmalonic Encephalopathy AR 602473
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
Farber's Lipogranulomatosis AR 228000
Febrile seizures, familial, 11 AR 614418
Fg Syndrome XL 305450
FG Syndrome 4 300422
Fucosidosis AR 230000
Fukuyama Congenital Muscular Dystrophy AR 253800
Galactosylceramide Beta-Galactosidase Deficiency AR 245200
Galloway-Mowat Syndrome 3 AR 617729
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 7 AD 613863
Generalized Epilepsy with Febrile Seizures Plus, Type 9 AD 616172
Gillessen-Kaesbach-Nishimura syndrome AR 263210
Glass Syndrome AD 612313
Glioma Susceptibility 2 613028
Global developmental delay, progressive ataxia, and elevated glutamine AR 618412
Glut1 Deficiency Syndrome 1 AD 606777
Glut1 Deficiency Syndrome 2 AD 612126
Glycine Encephalopathy AR 605899
Glycosylphosphatidylinositol biosynthesis defect 11 AR 616025
Glycosylphosphatidylinositol biosynthesis defect 15 AR 617810
GRACILE Syndrome AR 603358
Heimler syndrome 1 AR 234580
Heimler syndrome 2 AR 616617
Helsmoortel-van der Aa Syndrome AD 615873
Heterotopia, Periventricular, Autosomal Recessive AR 608097
Homocystinuria due to MTHFR Deficiency AR 236250
Hyperaldosteronism, familial, type II AD 605635
Hyperaldosteronism, Familial, Type IV AD 617027
Hyperekplexia Hereditary AR 149400
Hyperinsulinemic Hypoglycemia, Familial 6 AD 606762
Hyperparathyroidism, Neonatal Severe Primary AR 239200
Hyperphosphatasia With Mental Retardation AR 239300
Hyperphosphatasia with mental retardation syndrome 2 AR 614749
Hypocalcemia, autosomal dominant AD 601198
Hypomagnesemia, seizures, and mental retardation 2 AD 618314
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies AR 615419
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 AR 616801
Indifference To Pain, Congenital, Autosomal Recessive AR 243000
Infantile Gm1 Gangliosidosis AR 230500
Inosine Triphosphatase Deficiency 613850
Intellectual developmental disorder 60 with seizures AD 618587
Intellectual developmental disorder with seizures and language delay 619000
Intellectual developmental disorder with severe speech and ambulation defects AD 618470
Joubert Syndrome 9 AR 612285
Juvenile GM1 Gangliosidosis AR 230600
Juvenile Myoclonic Epilepsy AD 254770
KBG Syndrome AD 148050
Knobloch Syndrome 1 AR 267750
Kohlschutter-Tonz syndrome AR 226750
Koolen-De Vries Syndrome AD 610443
Krabbe Disease Atypical Due To Saposin A Deficiency AR 611722
Lafora Disease AR 254780
Leigh Syndrome AR 256000
LEOPARD Syndrome 3 AD 613707
Leukodystrophy, Hypomyelinating 3 AR 260600
Leukodystrophy, hypomyelinating, 18 AR 618404
Leukoencephalopathy with Ataxia AR 615651
Leukoencephalopathy With Vanishing White Matter AR 603896
Liang-Wang syndrome AD 618729
Lissencephaly 1 AD 607432
Lissencephaly 2 AR 257320
Lissencephaly 3 AD 611603
Lissencephaly 4 AR 614019
Lissencephaly 9 with complex brainstem malformation AD 618325
Lujan-Fryns Syndrome XL 309520
Macrocephaly/Autism Syndrome AD 605309
Meckel Syndrome 6 AR 612284
MECP2 Duplication Syndrome XL 300260
Megalencephalic Leukoencephalopathy With Subcortical Cysts AR 604004
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A AR 613925
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation AD 613926
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 AD 615937
Meningioma, Familial 607174
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia XL 300749
Mental Retardation, Autosomal Dominant 1 AD 156200
Mental Retardation, Autosomal Dominant 13; MRD13 AD 614563
Mental Retardation, Autosomal Dominant 24 AD 615828
Mental Retardation, Autosomal Dominant 29 AD 616078
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 42 AD 616973
Mental Retardation, Autosomal Dominant 43 AD 616977
Mental retardation, autosomal dominant 45 AD 617600
Mental retardation, autosomal dominant 46 AD 617601
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 Dominant 9 AD 614255
Mental Retardation, Autosomal Recessive 12 AR 611090
Mental retardation, autosomal recessive 41 AR 615637
Mental Retardation, Autosomal Recessive 53 AR 616917
Mental retardation, autosomal recessive 57 AR 617188
Mental retardation, autosomal recessive 67 AR 618295
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 72 XL 300271
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, Claes-Jensen Type XL 300534
Mental Retardation, X-Linked, Syndromic, Hedera Type XL 300423
Mental retardation, X-linked, syndromic, Houge type XL 301008
Mental Retardation, X-Linked, Syndromic, Nascimento Type XL 300860
Mental Retardation, X-Linked, Syndromic, Wu Type XL 300699
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait XL 300354
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, Postnatal Progressive, With Seizures And Brain Atrophy AR 613668
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy AR 615760
Microcephaly, short stature, and polymicrogyria with seizures AR 614833
Mitochondrial Complex I Deficiency AR 252010
Mitochondrial complex I deficiency, nuclear type 12 XL 301020
Mitochondrial complex I deficiency, nuclear type 16 AR 618238
Mitochondrial complex I deficiency, nuclear type 2 AR 618222
Mitochondrial complex I deficiency, nuclear type 4 AR 618225
Mitochondrial Complex III Deficiency AR 124000
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type AR 613662
Molybdenum Cofactor Deficiency C AR 615501
Molybdenum Cofactor Deficiency Type A AR 252150
Molybdenum Cofactor Deficiency Type B AR 252160
Mowat-Wilson Syndrome AD 235730
Multiple Carboxylase Deficiency, Juvenile Onset AR 253260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome AR 614080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Multiple congenital anomalies-hypotonia-seizures syndrome 3 AR 615398
Multiple Mitochondrial Dysfunctions Syndrome 2 AR 614299
Multiple system atrophy, susceptibility to AR 146500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 AR 613155
Myasthenic Syndrome, Congenital, 18 AD 616330
Myasthenic syndrome, congenital, with tubular aggregates 2 AR 614750
Myoclonic Epilepsy, Familial Infantile AR 605021
Myoclonic-Atonic Epilepsy AD 616421
Myoclonus, familial, 2 AD 618364
Nephrotic Syndrome, Type 15 AR 617609
Neu-Laxova syndrome 2 AR 616038
Neurodegeneration With Brain Iron Accumulation 5 XL 300894
Neurodegeneration, childhood-onset, with brain atrophy AD 617672
Neurodevelopmental disorder and language delay with or without structural brain abnormalities AD 618354
Neurodevelopmental disorder with absent language and variable seizures AD 618707
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures AR 618056
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination AD 617393
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language AD 617268
Neurodevelopmental Disorder with Involuntary Movements AD 617493
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy AR 617862
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive AR 617820
Neurodevelopmental disorder with or without seizures and gait abnormalities AD 617864
Neurodevelopmental disorder with poor language and loss of hand skills AD 617903
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies AR 617527
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures AD 618088
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements AR 618497
Neurodevelopmental disorder with seizures and speech and walking impairment AR 618480
Nicolaides-Baraitser Syndrome AD 601358
Noonan Syndrome 7 AD 613706
O'Donnell-Luria-Rodan syndrome AD 618512
Obesity, Hyperphagia, And Developmental Delay AD 613886
Optic atrophy 5 AD 610708
Parkinson Disease 20 AR 615530
Parkinsonism with Spasticity, X-Linked XL 300911
Paroxysmal Extreme Pain Disorder AD 167400
Partington X-Linked Mental Retardation Syndrome XL 309510
Periventricular Nodular Heterotopia 7 AD 617201
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 10B AR 617370
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 3B AR 266510
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AR 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 5B AR 614867
Peroxisome biogenesis disorder 6A (Zellweger) AR 614870
Peroxisome biogenesis disorder 6B AR 614871
Phosphoglycerate Dehydrogenase Deficiency AR 601815
Phosphoserine Aminotransferase Deficiency AR 610992
Phosphoserine Phosphatase Deficiency AR 614023
Pierpont syndrome AD 602342
Pitt-Hopkins Syndrome AD 610954
Pitt-Hopkins-like syndrome 2 AR 614325
Poirier-Bienvenu neurodevelopmental syndrome AD 618732
Polyendocrine-polyneuropathy syndrome AR 616113
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy AR 611087
Polymicrogyria With Optic Nerve Hypoplasia AR 613180
Polymicrogyria, Asymmetric AD 610031
Polymicrogyria, Bilateral Frontoparietal AR 606854
Polymicrogyria, bilateral perisylvian 615752
Porencephaly 1 AD 175780
Porencephaly 2 AD 614483
Primary Aldosteronism, Seizures, and Neurologic Abnormalities AD 615474
Primary Erythromelalgia AD 133020
Progressive Myoclonus Epilepsy With Ataxia AR 612437
Progressive Sclerosing Poliodystrophy AR 203700
Prostate Cancer 176807
Proud Levine Carpenter Syndrome XL 300004
Pseudo-TORCH Syndrome 1 AR 251290
Pyridoxal 5'-Phosphate-Dependent Epilepsy AR 610090
Pyridoxine-Dependent Epilepsy AR 266100
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency AR 614462
Retinal arteries, tortuosity of AD 180000
Retinitis Pigmentosa 59 AR 613861
Rett Syndrome XL 312750
Rett Syndrome, Congenital Variant AD 613454
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal AR 614498
Sandhoff Disease AR 268800
Schindler Disease, Type 1 AR 609241
Schinzel-Giedion Midface Retraction Syndrome AD 269150
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
Short stature, brachydactyly, intellectual developmental disability, and seizures AR 617157
Smith-Kingsmore Syndrome AD 616638
Smith-Lemli-Opitz Syndrome AR 270400
Snyder Robinson Syndrome XL 309583
Sotos' Syndrome AD 117550
Spastic Paraplegia 77 AR 617046
Spastic Paraplegia and Psychomotor Retardation with or without Seizures AR 616756
Sphingolipid Activator Protein 1 Deficiency AR 249900
Spinal muscular atrophy with progressive myoclonic epilepsy AR 159950
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant; SMALED AD 158600
Spinocerebellar Ataxia 6 AD 183086
Spinocerebellar ataxia, autosomal recessive 12 AR 614322
Spongy Degeneration Of Central Nervous System AR 271900
Squalene synthase deficiency AR 618156
Stomatin-deficient cryohydrocytosis with neurologic defects AD 608885
Stroke, hemorrhagic 614519
Succinate-Semialdehyde Dehydrogenase Deficiency AR 271980
Sulfite Oxidase Deficiency AR 272300
Tay-Sachs disease AB Variant AR 272750
Temple-Baraitser Syndrome AD 611816
Temtamy Syndrome AR 218340
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
Vasculopathy, Retinal, With Cerebral Leukodystrophy AD 192315
Vici Syndrome AR 242840
Waisman Syndrome XL 311510
Walker-Warburg Congenital Muscular Dystrophy AR 236670
Wrinkly Skin Syndrome AR 278250
X-Linked Lissencephaly XL 300067
X-Linked Lissencephaly 2 XL 300215
X-Linked Periventricular Heterotopia XL 300049
X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance XL 300486
Zimmermann-Laband Syndrome 1 AD 135500
{Epilepsy, idiopathic generalized, susceptibility to, 15} AD 618357
{Epilepsy, idiopathic generalized, susceptibility to, 16} AD 618596

Related Test

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PGxome®
Early Infantile Epileptic Encephalopathy Panel

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