Epilepsy, Myoclonic Juvenile; Ejm

Description

Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see {600669}) affecting up to 26% of all individuals with EIG. Individuals with JME have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks occur usually in the morning (Janz and Durner, 1997). Genetic Heterogeneity of Juvenile Myoclonic SeizuresSusceptibility to EJM can be conferred by variation in several other genes: EJM5 (OMIM ), by variation in the GABRA1 gene (OMIM ) on 5q34; EJM6 (see {607682}), by variation in the CACNB4 gene (OMIM ) on 2q23; EJM7 (see {613060}), by variation in the GABRD gene (OMIM ) on 1p36; and EJM8 (see {607628}), by variation in the CLCN2 gene (OMIM ) on 3q27.In addition, EJM loci have been identified by linkage analysis: EJM2 (see {604827}) on 15q14, EJM3 (OMIM ) on 6p21, EJM4 (OMIM ) on 5q12-q14, and EJM9 (OMIM ) on 2q33-q36.

Clinical Features

Top most frequent phenotypes and symptoms related to Epilepsy, Myoclonic Juvenile; Ejm

  • Seizures
  • Pica
  • Depressivity
  • Myoclonus
  • Aggressive behavior
  • Abnormality of eye movement
  • Febrile seizures
  • Generalized myoclonic seizures
  • Generalized tonic-clonic seizures
  • Generalized seizures
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Epilepsy, Myoclonic Juvenile; Ejm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Episodic Ataxia Evaluation.

By Athena Diagnostics Inc in United States.

SLC1A3, CACNB4, KCNA1, CACNA1A
Specificity
25 %
Genes
13 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
13 %
Ataxia, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc in United States.

SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SLC1A3, CACNB4, KCNA1, CACNA1A, AFG3L2, PRKCG
Specificity
7 %
Genes
13 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc in United States.

SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SLC1A3, CACNB4, KCNA1, ATN1, ATXN8OS, TBP, CACNA1A, ATXN7, ATXN10, ATXN3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
13 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...)

View the complete list with 64 more genes
Specificity
6 %
Genes
63 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
3 %
Genes
63 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)

View the complete list with 125 more genes
Specificity
5 %
Genes
75 %
Childhood Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1 , (...)

View the complete list with 27 more genes
Specificity
7 %
Genes
38 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...)

View the complete list with 78 more genes
Specificity
5 %
Genes
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
25 %
Comprehensive Epilepsy Panel.

By GeneDx in United States.

ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A , (...)

View the complete list with 50 more genes
Specificity
6 %
Genes
50 %
Childhood-Onset Epilepsy Panel.

By GeneDx in United States.

ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
38 %
Episodic Ataxia type 5.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR in Italy.

CACNB4
Specificity
100 %
Genes
13 %
CACNB4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CACNB4
Specificity
100 %
Genes
13 %
KCNA1, CACNA1A, CACNB4, SLC1A3. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC1A3, CACNB4, KCNA1, CACNA1A
Specificity
25 %
Genes
13 %
Episodic ataxia type 5 (sequence analysis of CACNB4 gene).

By CGC Genetics in Portugal.

CACNB4
Specificity
100 %
Genes
13 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

PLEKHG4, TMEM240, ZNF592, ELOVL5, PIK3R5, CCDC88C, VLDLR, DNMT1, PNKP, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SIL1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
13 %
Myoclonic epilepsy, juvenile (sequence analysis of CACNB4 gene).

By CGC Genetics in Portugal.

CACNB4
Specificity
100 %
Genes
13 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1 , (...)

View the complete list with 133 more genes
Specificity
3 %
Genes
50 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)

View the complete list with 202 more genes
Specificity
3 %
Genes
63 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
2 %
Genes
75 %
Progressive Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

NOL3, MYBPC1, NEU1, ASAH1, SCARB2, GABRA1, EPM2A, KCNC1, GABRD, FOLR1, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, CACNB4, CASR, SGCE, CSTB , (...)

View the complete list with 11 more genes
Specificity
13 %
Genes
50 %
Ataxia.

By MGZ Medical Genetics Center in Germany.

KCNA4, SLC52A3, SLC6A19, SLC52A2, SLC2A10, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, SETX, CACNA1A, SACS, ATM, SLC2A1, TACO1, ASL, APTX, ASS1, SLC25A15 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
13 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
2 %
Genes
63 %
Episodic Ataxia and Phenocopies.

By MGZ Medical Genetics Center in Germany.

KCNA4, SLC6A19, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, CACNA1A, SLC2A1, ASL, SLC22A5, ASS1, ETFDH, ETFA, ETFB, SLC25A15, IVD, DBT, ABHD5, PDHA1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
13 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...)

View the complete list with 192 more genes
Specificity
3 %
Genes
63 %
IGE/JME/CAE panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

BRD2, CLCN2, GABRA1, GABRD, GABRB3, EFHC1, CACNA1H, CACNB4, CASR, SLC2A1, ME2
Specificity
46 %
Genes
63 %
Episodic ataxia type 5.

By Centogene AG - the Rare Disease Company in Germany.

CACNB4
Specificity
100 %
Genes
13 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH in Germany.

NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD , (...)

View the complete list with 20 more genes
Specificity
15 %
Genes
75 %
Episodic Ataxia Panel.

By CeGaT GmbH in Germany.

KCNQ2, FGF14, SLC1A3, CACNB4, KCNA1, CACNA1A, SLC2A1
Specificity
15 %
Genes
13 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
25 %
Single gene testing CACNB4.

By CeGaT GmbH in Germany.

CACNB4
Specificity
100 %
Genes
13 %
Ataxia, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

NOP56, TMEM240, ELOVL5, BEAN1, CACNA1G, CCDC88C, VLDLR, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SLC1A3, CACNB4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
13 %
Epilepsy, juvenile myoclonic 6.

By Praxis fuer Humangenetik Wien in Austria.

CACNB4
Specificity
100 %
Genes
13 %
Episodic Ataxia 5.

By Praxis fuer Humangenetik Wien in Austria.

CACNB4
Specificity
100 %
Genes
13 %
Epilepsy, juvenile myoclonic 6.

By MedGene in Slovakia.

CACNB4
Specificity
100 %
Genes
13 %
Episodic Ataxia 5.

By MedGene in Slovakia.

CACNB4
Specificity
100 %
Genes
13 %
DRAVET, SYNDROME & MIOCLONIC EPILEPSY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GABRG2, GABRA1, EPM2A, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, EFHC1, CACNB4, SCN1A, PCDH19, CHRNA7
Specificity
31 %
Genes
50 %
EPILEPSY HEREDITARY PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

JRK, CLCN2, SCN8A, SRPX2, PRRT2, DEPDC5, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3 , (...)

View the complete list with 17 more genes
Specificity
19 %
Genes
88 %
Episodic ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC1A3, CACNB4, KCNA1, CACNA1A
Specificity
25 %
Genes
13 %
Ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

IFRD1, ZNF592, PIK3R5, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, CACNA1A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
13 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 90 more genes
Specificity
4 %
Genes
50 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
13 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
3 %
Genes
50 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 87 more genes
Specificity
4 %
Genes
50 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
13 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
2 %
Genes
75 %
CACNB4.

By Fulgent Genetics Fulgent Genetics in United States.

CACNB4
Specificity
100 %
Genes
13 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1 , (...)

View the complete list with 69 more genes
Specificity
7 %
Genes
75 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...)

View the complete list with 113 more genes
Specificity
4 %
Genes
63 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
2 %
Genes
75 %
Ataxia Panel.

By Blueprint Genetics in Finland.

CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...)

View the complete list with 137 more genes
Specificity
2 %
Genes
25 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)

View the complete list with 263 more genes
Specificity
2 %
Genes
63 %
Idiopathic Generalized and Focal Epilepsy Panel.

By Blueprint Genetics in Finland.

MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B , (...)

View the complete list with 14 more genes
Specificity
15 %
Genes
63 %
Episodic ataxia type 5.

By Bioarray in Spain.

CACNB4
Specificity
100 %
Genes
13 %
EPISODIC ATAXIA TYPE 5.

By Laboratorio de Genetica Clinica SL in Spain.

CACNB4
Specificity
100 %
Genes
13 %
JUVENILE MYOCLONIC EPILEPSY.

By Laboratorio de Genetica Clinica SL in Spain.

CLCN2, GABRA1, EFHC1, CACNB4
Specificity
100 %
Genes
50 %
Episodic ataxia panel.

By LifeLabs Genetics in Canada.

SLC1A3, CACNB4, KCNA1
Specificity
34 %
Genes
13 %
Episodic Ataxia Type 5, Sequencing CACNB4 Gene.

By Reference Laboratory Genetics in Spain.

CACNB4
Specificity
100 %
Genes
13 %
Episodic Ataxia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

SLC1A3, CACNB4, KCNA1, CACNA1A
Specificity
25 %
Genes
13 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.

By Reference Laboratory Genetics in Spain.

CLCN2, SCN8A, SRPX2, PRRT2, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1 , (...)

View the complete list with 14 more genes
Specificity
18 %
Genes
75 %
Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

GABRG2, GABRA1, EPM2A, SCN2A, SCN1B, SCN9A, NHLRC1, EFHC1, CACNB4, SCN1A, PCDH19
Specificity
28 %
Genes
38 %
Epilepsy, idiopathic generalized type 11 (sequence analysis of CLCN2 gene).

By CGC Genetics in Portugal.

CLCN2
Specificity
100 %
Genes
13 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
13 %
Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CLCN2, TBC1D24, GABRG2, GABRD, SCN2A, SCN1B, SCN9A, SCN1A, PCDH19, ADGRV1
Specificity
20 %
Genes
25 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

AIMP1, FAM126A, POLR3B, POLR3A, HEPACAM, EARS2, RNASET2, ADAR, TUBB4A, CLCN2, SOX10, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, FOLR1, NOTCH3, EIF2B4 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
13 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AIMP1, FAM126A, POLR3B, POLR3A, HEPACAM, EARS2, RNASET2, ADAR, TUBB4A, CLCN2, SOX10, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, FOLR1, NOTCH3, EIF2B4 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
13 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

PRPH, ADD3, VPS54, KLC4, FLRT1, ARSI, ATP2B4, ARHGEF28, KANK1, HNRNPA1, HNRNPA2B1, AIMP1, FAM126A, STUB1, GRID2, SLC1A4, AMPD2, CCDC88C, ARL6IP1, IBA57 , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
13 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
13 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
13 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC in Estonia.

NOP56, CWF19L1, TMEM240, SNX14, RUBCN, SLC9A1, STUB1, RNF216, ELOVL5, LAMA1, SLC52A2, ATCAY, ATP8A2, CCDC88C, PTF1A, TUBB4A, CLCN2, DNMT1, CASK, OPHN1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
13 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

AIMP1, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, EARS2, CSF1R, RNASET2, ADAR, TUBB4A, CLCN2, SOX10, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2A, SAMHD1, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
13 %
Epilepsy, idiopathic generalized, 11.

By Praxis fuer Humangenetik Wien in Austria.

CLCN2
Specificity
100 %
Genes
13 %
Epilepsy, juvenile myoclonic 8.

By Praxis fuer Humangenetik Wien in Austria.

CLCN2
Specificity
100 %
Genes
13 %
Epilepsy, idiopathic generalized, 11.

By MedGene in Slovakia.

CLCN2
Specificity
100 %
Genes
13 %
Epilepsy, juvenile myoclonic 8.

By MedGene in Slovakia.

CLCN2
Specificity
100 %
Genes
13 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
25 %
CLCN2.

By Fulgent Genetics Fulgent Genetics in United States.

CLCN2
Specificity
100 %
Genes
13 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

SNORD118, MRPL44, LYRM7, DARS, AIMP1, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RNF216, RARS, SERAC1, PYCR2, IBA57, HEPACAM, EARS2, CSF1R, SCO1, MARS2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
13 %
Early Infantile Epileptic Encephalopathy Panel.

By Genetic Services Laboratory University of Chicago in United States.

KCNH5, NECAP1, CLCN4, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, KCNA2, EEF1A2, CACNA2D2, ARFGEF2 , (...)

View the complete list with 25 more genes
Specificity
5 %
Genes
25 %
EFHC1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EFHC1
Specificity
100 %
Genes
13 %
Myoclonic epilepsy, juvenile (sequence analysis of EFHC1 gene).

By CGC Genetics in Portugal.

EFHC1
Specificity
100 %
Genes
13 %
Juvenile Myoclonic Epilepsy (JME).

By MGZ Medical Genetics Center in Germany.

GABRD, EFHC1
Specificity
100 %
Genes
25 %
EFHC1-Related Juvenile Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

EFHC1
Specificity
100 %
Genes
13 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1 , (...)

View the complete list with 69 more genes
Specificity
5 %
Genes
50 %
Malformations of Cortical Development.

By MGZ Medical Genetics Center in Germany.

DSC2, JUP, DSG2, TGFB3, TRDN, RYR2, PKP2, EFHC1, TMEM43, DES, FGFR3, DSP
Specificity
9 %
Genes
13 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...)

View the complete list with 166 more genes
Specificity
3 %
Genes
50 %
Epilepsy, juvenile absence type 1.

By Centogene AG - the Rare Disease Company in Germany.

EFHC1
Specificity
100 %
Genes
13 %
Epilepsy, juvenile absence.

By Praxis fuer Humangenetik Wien in Austria.

EFHC1
Specificity
100 %
Genes
13 %
Epilepsy, juvenile myoclonic 1.

By Praxis fuer Humangenetik Wien in Austria.

EFHC1
Specificity
100 %
Genes
13 %
Epilepsy, juvenile absence.

By MedGene in Slovakia.

EFHC1
Specificity
100 %
Genes
13 %
Epilepsy, juvenile myoclonic 1.

By MedGene in Slovakia.

EFHC1
Specificity
100 %
Genes
13 %
Invitae Epilepsy Panel.

By Invitae in United States.

ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...)

View the complete list with 105 more genes
Specificity
3 %
Genes
38 %
Epilepsy, Juvenile myoclonic: EFHC1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EFHC1
Specificity
100 %
Genes
13 %
EFHC1.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC1
Specificity
100 %
Genes
13 %
Juvenile myoclonic epilepsy.

By Bioarray in Spain.

EFHC1
Specificity
100 %
Genes
13 %
Juvenile Myoclonic Epilepsy , Sequencing EFHC1 Gene.

By Reference Laboratory Genetics in Spain.

EFHC1
Specificity
100 %
Genes
13 %
Childhood absence epilepsy.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

JRK, GABRG2, GABRA1, GABRB3, CACNA1H, SLC2A1
Specificity
34 %
Genes
25 %
JRK.

By Fulgent Genetics Fulgent Genetics in United States.

JRK
Specificity
100 %
Genes
13 %
Infantile Epilepsy Panel.

By GeneDx in United States.

ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3 , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
25 %
CustomNext: Neuro.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
2 %
Genes
25 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
2 %
Genes
25 %
EpiFirst-Fever.

By Ambry Genetics in United States.

SCN8A, PRRT2, GABRG2, GABRA1, CHD2, HCN1, STX1B, SCN2A, SCN1B, GABRB3, SCN1A, PCDH19, STXBP1
Specificity
8 %
Genes
13 %
EpilepsyNext.

By Ambry Genetics in United States.

ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 80 more genes
Specificity
2 %
Genes
25 %
EpiRapid reflex EpilepsyNext.

By Ambry Genetics in United States.

ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 80 more genes
Specificity
2 %
Genes
25 %
GABRA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GABRA1
Specificity
100 %
Genes
13 %
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 69 more genes
Specificity
3 %
Genes
25 %
Epileptic encephalopathy, early infantile, 19 (sequence analysis of GABRA1 gene).

By CGC Genetics in Portugal.

GABRA1
Specificity
100 %
Genes
13 %
Early infantile epileptic encephalopathy (NGS panel for 26 genes).

By CGC Genetics in Portugal.

ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, TBC1D24, GABRA1, KCNQ2, KCNT1, HCN1, GRIN2B, SCN2A, SCN1A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
13 %
Epileptic encephalopathy (NGS panel for 67 genes).

By CGC Genetics in Portugal.

SRGAP2, MAPK10, ACY1, TBCE, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
13 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF , (...)

View the complete list with 62 more genes
Specificity
3 %
Genes
25 %
Juvenile Myoclonic Epilepsy via the GABRA1 Gene.

By PreventionGenetics PreventionGenetics in United States.

GABRA1
Specificity
100 %
Genes
13 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
25 %
GABRA1.

By MGZ Medical Genetics Center in Germany.

GABRA1
Specificity
100 %
Genes
13 %
Epileptic Encephalopathy – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

GABRA1, PNPO, KCNC1, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1A, PHGDH, PPT1, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
13 %
Febrile Seizures.

By MGZ Medical Genetics Center in Germany.

GABRA1, HCN1, GABRD, STX1B, SCN2A, SCN1B, SCN1A, PCDH19
Specificity
25 %
Genes
25 %
Epilepsy, childhood absence type 4.

By Centogene AG - the Rare Disease Company in Germany.

GABRA1
Specificity
100 %
Genes
13 %
GABRA1.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

GABRA1
Specificity
100 %
Genes
13 %
Epileptic Encephalopathy Panel.

By CeGaT GmbH in Germany.

GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
13 %
Single gene testing GABRA1.

By CeGaT GmbH in Germany.

GABRA1
Specificity
100 %
Genes
13 %
Dravet syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

GABRG2, GABRA1, SCN2A, SCN9A, SCN1A, PCDH19, STXBP1
Specificity
15 %
Genes
13 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...)

View the complete list with 104 more genes
Specificity
3 %
Genes
38 %
Epilepsy, juvenile myoclonic 5.

By Praxis fuer Humangenetik Wien in Austria.

GABRA1
Specificity
100 %
Genes
13 %
Epilepsy, juvenile myoclonic 5.

By MedGene in Slovakia.

GABRA1
Specificity
100 %
Genes
13 %
Invitae Early Infantile Epileptic Encephalopathy Panel.

By Invitae in United States.

FRRS1L, IER3IP1, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, PIGA, SCN8A, GNAO1, SZT2, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, HNRNPU , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
25 %
Epileptic encephalopathies.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MAPK10, AARS, TREX1, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, DNM1, SRPX2, DCX, TBC1D24, MBD5, GRIN2A, GABRA1, CHD2, KCNQ2 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
13 %
GABRA1.

By Fulgent Genetics Fulgent Genetics in United States.

GABRA1
Specificity
100 %
Genes
13 %
Essential Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2 , (...)

View the complete list with 50 more genes
Specificity
3 %
Genes
25 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS , (...)

View the complete list with 108 more genes
Specificity
2 %
Genes
25 %
Juvenile myoclonic epilepsy.

By Bioarray in Spain.

GABRA1
Specificity
100 %
Genes
13 %
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

ITPA, AP3B2, SLC1A2, AARS, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, DNM1, TBC1D24, ALG13, GABRA1, KCNQ2, HCN1, GRIN2B, SCN2A, SCN9A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
13 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
25 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
13 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
13 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
13 %
Skeletal dysplasia ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
Skeletal dysplasia ciliopathy NGS panel.

By Connective Tissue Gene Tests in United States.

DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
Skeletal dysplasia ciliopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DYNC2LI1, TCTEX1D2, IFT52, KIAA0753, IFT81, WDR34, WDR60, NEK1, ICK, DYNC2H1, CEP120, IFT172, C2CD3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
13 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
13 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
13 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
13 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
13 %
ICK.

By Fulgent Genetics Fulgent Genetics in United States.

ICK
Specificity
100 %
Genes
13 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
13 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
13 %
SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GABRG2, GABRD, SCN1B, SCN9A, SCN1A
Specificity
20 %
Genes
13 %
GABRD. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GABRD
Specificity
100 %
Genes
13 %
Epilepsy, idiopathic generalized type 10 (sequence analysis of GABRD gene).

By CGC Genetics in Portugal.

GABRD
Specificity
100 %
Genes
13 %
GABRD-Related Juvenile Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

GABRD
Specificity
100 %
Genes
13 %
Generalized epilepsy with febrile seizures plus type 5.

By Centogene AG - the Rare Disease Company in Germany.

GABRD
Specificity
100 %
Genes
13 %
Epilepsy, idiopathic generalized type 10.

By Centogene AG - the Rare Disease Company in Germany.

GABRD
Specificity
100 %
Genes
13 %
GABRD.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

GABRD
Specificity
100 %
Genes
13 %
Generalized epilepsy with febrile seizures plus.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

GABRG2, GABRD, SCN2A, SCN1B, SCN9A, SCN1A
Specificity
17 %
Genes
13 %
Epilepsy, generalized with febrile seizures plus (GEFS+) 5.

By Praxis fuer Humangenetik Wien in Austria.

GABRD
Specificity
100 %
Genes
13 %
Epilepsy, idiopathic generalized, 10.

By Praxis fuer Humangenetik Wien in Austria.

GABRD
Specificity
100 %
Genes
13 %
Epilepsy, juvenile myoclonic 7.

By Praxis fuer Humangenetik Wien in Austria.

GABRD
Specificity
100 %
Genes
13 %
Epilepsy, generalized with febrile seizures plus (GEFS+) 5.

By MedGene in Slovakia.

GABRD
Specificity
100 %
Genes
13 %
Epilepsy, idiopathic generalized, 10.

By MedGene in Slovakia.

GABRD
Specificity
100 %
Genes
13 %
Epilepsy, juvenile myoclonic 7.

By MedGene in Slovakia.

GABRD
Specificity
100 %
Genes
13 %
GABRD.

By Fulgent Genetics Fulgent Genetics in United States.

GABRD
Specificity
100 %
Genes
13 %
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type V.

By Bioarray in Spain.

GABRD
Specificity
100 %
Genes
13 %
Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

GABRG2, GABRD, SCN1B, SCN9A, SCN1A
Specificity
20 %
Genes
13 %
Infantile Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
13 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
13 %
STAT Epilepsy Panel.

By GeneDx in United States.

SPTAN1, SCN8A, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SCN1A, SLC2A1, PCDH19, MEF2C, CDKL5, ARX, ALDH7A1, STXBP1, MECP2, POLG
Specificity
6 %
Genes
13 %
EpiRapid.

By Ambry Genetics in United States.

SCN8A, PRRT2, PNPO, KCNQ3, KCNQ2, KCNT1, FOLR1, SCN1A, TSC1, TSC2, SLC2A1, PCDH19, ALDH7A1, STXBP1, MECP2, POLG
Specificity
7 %
Genes
13 %
KCNQ3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

KCNQ3
Specificity
100 %
Genes
13 %
SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CHRNA4, CHRNA2, KCNQ3, KCNQ2, SCN2A, CHRNB2, SCN1A, SLC2A1, PCDH19, CDKL5, ARX, STXBP1
Specificity
9 %
Genes
13 %
SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

KCNQ3, KCNQ2
Specificity
50 %
Genes
13 %
KCNQ3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

KCNQ3
Specificity
100 %
Genes
13 %
Epileptic encephalopathy, early infantile 2 (sequence analysis of KCNQ3 gene).

By CGC Genetics in Portugal.

KCNQ3
Specificity
100 %
Genes
13 %
Epilepsy: Benign Familial Neonatal Seizures Type 2 via the KCNQ3 Gene.

By PreventionGenetics PreventionGenetics in United States.

KCNQ3
Specificity
100 %
Genes
13 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
13 %
KCNQ3-Related Benign Familial Neonatal Epilepsy.

By MGZ Medical Genetics Center in Germany.

KCNQ3
Specificity
100 %
Genes
13 %
Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS).

By MGZ Medical Genetics Center in Germany.

PRRT2, KCNQ3, KCNQ2, SCN2A
Specificity
25 %
Genes
13 %
KCNQ3.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

KCNQ3
Specificity
100 %
Genes
13 %
Benign neonatal/infantile convulsions panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PRRT2, TBC1D24, KCNQ3, KCNQ2, SCN2A
Specificity
20 %
Genes
13 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
13 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
13 %
Single gene testing KCNQ3.

By CeGaT GmbH in Germany.

KCNQ3
Specificity
100 %
Genes
13 %
Seizures benign neonatal 2, KCNQ3.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

KCNQ3
Specificity
100 %
Genes
13 %
Seizures benign neonatal 2, KCNQ3.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

KCNQ3
Specificity
100 %
Genes
13 %
Epilepsy, benign neonatal 2.

By Praxis fuer Humangenetik Wien in Austria.

KCNQ3
Specificity
100 %
Genes
13 %
Epilepsy, benign neonatal 2.

By MedGene in Slovakia.

KCNQ3
Specificity
100 %
Genes
13 %
Epilepsy, Benign familial neonatal: KCNQ3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

KCNQ3
Specificity
100 %
Genes
13 %
KCNQ3.

By Fulgent Genetics Fulgent Genetics in United States.

KCNQ3
Specificity
100 %
Genes
13 %
Seizures, benign neonatal, type 2.

By Bioarray in Spain.

KCNQ3
Specificity
100 %
Genes
13 %
Benign familial neonatal seizures.

By Bioarray in Spain.

KCNQ3
Specificity
100 %
Genes
13 %
BENIGN FAMILIAL INFANTILE EPILEPSY.

By Laboratorio de Genetica Clinica SL in Spain.

PRRT2, KCNQ3, KCNQ2, SCN2A
Specificity
25 %
Genes
13 %
BENING FAMILIAL NEONATAL EPILEPSY.

By Laboratorio de Genetica Clinica SL in Spain.

KCNQ3, KCNQ2
Specificity
50 %
Genes
13 %
Benign familial Neonatal Epilepsy, Sequencing KCNQ3 Gene.

By Reference Laboratory Genetics in Spain.

KCNQ3
Specificity
100 %
Genes
13 %
Benign Familial Neonatal Infantile Seizures , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

PRRT2, KCNQ3, KCNQ2, SCN2A
Specificity
25 %
Genes
13 %
KCNQ3-Related Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

KCNQ3
Specificity
100 %
Genes
13 %
KCNQ3-Related Disorders: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

KCNQ3
Specificity
100 %
Genes
13 %

Alternate names

Epilepsy, Myoclonic Juvenile; Ejm Is also known as myoclonic epilepsy, juvenile;jme, petit mal, impulsive, janz syndrome;jme; juvenile myoclonus epilepsy.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TETRALOGY OF FALLOT; TOF SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 IMMUNODEFICIENCY 17; IMD17

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