Epileptic Encephalopathy, Early Infantile, 2; Eiee2

Description

EIEE2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 2; Eiee2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Scoliosis
  • Motor delay
  • Muscular hypotonia
  • Cognitive impairment
And another 55 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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Epileptic Encephalopathy, Early Infantile, 2; Eiee2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CDKL5 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CDKL5
Specificity
100 %
Genes
100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

COL1A1, COL1A2, JAG1, RAF1, MECP2, FGFR3, BRAF, CDKL5, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
CDKL5 Sequencing and CNV Evaluation (Epilepsy).

By Athena Diagnostics Inc in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5 Sequencing and CNV Evaluation (Atypical Rett).

By Athena Diagnostics Inc in United States.

CDKL5
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc in United States.

UBE3A, ADSL, SLC25A19, MECP2, LIAS, STXBP1, SLC25A22, ALG9, GLDC, AMT, SLC9A6, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, KCNJ11 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc in United States.

ADSL, HSD17B10, MECP2, ABAT, GAMT, GATM, ALG9, SLC9A6, SLC6A8, ARX, CDKL5, CHRNA7, PCDH19, PLP1, SMC1A, GPC3, DPYD, SLC35A2, FOLR1, GABRB2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms.

By Athena Diagnostics Inc in United States.

ADSL, STXBP1, SLC25A22, ARX, CDKL5, FOXG1, MEF2C, GABRB3, SCN2A, SLC35A2, GRIN2A, CACNA2D1, TBL1XR1, NR2F1, ST3GAL3, SPTAN1
Specificity
7 %
Genes
100 %
Syndromic Autism Panel.

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

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS XLID Panel.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel.

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

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, PQBP1, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, EHMT1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

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

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Atypical Rett Syndrome.

By Center for Human Genetics, Inc in United States.

CDKL5
Specificity
100 %
Genes
100 %
Atypical Rett Syndrome - CDKL5 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

CDKL5
Specificity
100 %
Genes
100 %
Rett Syndrome, Atypical, CDKL5, Sequencing.

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

CDKL5
Specificity
100 %
Genes
100 %
Autsim Panel.

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

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Childhood Epilepsy.

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

UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, FOXG1, MEF2C, SLC2A1, CLN6, CLN8, PPT1, CLN5, CSTB, SCN1A , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Brain Malformation Panel.

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

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Epilepsy/Seizure.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Infantile Epilepsy.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, PTS, QDPR, TPP1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Microcephaly.

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

UBE3A, TUBB3, SLC25A19, MECP2, SLC9A6, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, MCPH1, ASPM, CENPJ, RAB3GAP1, STIL, TCF4, ATRX, CASK, ZEB2, CEP152 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Rett - Angelman Syndrome.

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

UBE3A, MECP2, SLC9A6, CDKL5, FOXG1, MEF2C, MBD5, WDR45, NRXN1, TCF4, CNTNAP2, ZEB2
Specificity
9 %
Genes
100 %
X-Linked Intellectual Disabilities Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-linked Intellectual Disabilities Sequencing.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
Rett/Angelman Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, EHMT1
Specificity
5 %
Genes
100 %
CDKL5 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

CDKL5
Specificity
100 %
Genes
100 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Panel.

By Genetic Services Laboratory University of Chicago in United States.

POLG, STXBP1, SLC25A22, ETHE1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SCN1A, EFHC1, GABRB3, ST3GAL5, SCN2A, GRIN2B, HCN1, KCNT1, KCNQ2, CHD2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
X-linked Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, HSD17B10, OCRL, HPRT1, NHS, MECP2, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, SLC6A8, ARX, CDKL5, PCDH19, PLP1, SMC1A, L1CAM, DCX, PQBP1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Rett/Atypical Rett Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

MECP2, CDKL5, FOXG1, MEF2C
Specificity
25 %
Genes
100 %
Rett/Angelman Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, ADSL, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, WDR45, NRXN1, DYRK1A, PNKP, TCF4, CNTNAP2, ATRX, OPHN1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, GLDC, AMT, SLC9A6, SUOX, ALDH7A1, MOCS1, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL.

By Human Genetics Ruhr University in Germany.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5-Related Disorders Seq and Del/Dup.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5-Related Disorders (CDKL5) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

CDKL5
Specificity
100 %
Genes
100 %
CDKL5-Related Disorders (CDKL5) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

CDKL5
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy Panel.

By GeneDx in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
STAT Epilepsy Panel.

By GeneDx in United States.

POLG, MECP2, STXBP1, ALDH7A1, ARX, CDKL5, MEF2C, PCDH19, SLC2A1, SCN1A, SCN1B, SCN2A, FOLR1, KCNQ2, KCNQ3, PNPO, SCN8A, SPTAN1
Specificity
6 %
Genes
100 %
Infantile Epilepsy Panel.

By GeneDx in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Childhood-Onset Epilepsy Panel.

By GeneDx in United States.

UBE3A, ADSL, POLG, MECP2, GAMT, GATM, CTSD, SLC9A6, TPP1, CLN3, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1, CLN6, CLN8, PPT1, CLN5 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Rett/Angelman Syndrome Panel.

By GeneDx in United States.

UBE3A, MECP2, SLC9A6, CDKL5, FOXG1, MEF2C, MBD5, NRXN1, TCF4, CNTNAP2, ZEB2
Specificity
10 %
Genes
100 %
Rett/Atypical Rett/Angelman.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, MBD5, NRXN1, PNKP, TCF4, CNTNAP2, ATRX, ZEB2, EHMT1
Specificity
7 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
AutismNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, MECP2, SLC9A6, SLC6A8, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C, PCDH19, RAI1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
CDKL5 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

CDKL5
Specificity
100 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
EpiFirst-Infantile Spasms.

By Ambry Genetics in United States.

STXBP1, SLC25A22, ARX, CDKL5, FOXG1, TSC2, TSC1, SCN2A, KCNT1, KCNQ2, GRIN2A, EEF1A2, DNM1, SIK1, SCN8A, GRIN1, SPTAN1
Specificity
6 %
Genes
100 %
EpilepsyNext.

By Ambry Genetics in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
EpiRapid reflex EpilepsyNext.

By Ambry Genetics in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
IDNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
CDKL5 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CDKL5
Specificity
100 %
Genes
100 %
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.

STXBP1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CHRNB2, SCN2A, KCNQ2, KCNQ3, CHRNA2, CHRNA4
Specificity
9 %
Genes
100 %
CDKL5. Complete sequencing.

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

CDKL5
Specificity
100 %
Genes
100 %
MECP2, NTNG1, CDKL5. NextGeneDx. Complete sequencing by NGS.

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

MECP2, CDKL5, NTNG1
Specificity
34 %
Genes
100 %
Atypical Rett Syndrome - CDKL5 Sequence and Del/Dup Analysis.

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

CDKL5
Specificity
100 %
Genes
100 %
Atypical Rett Syndrome - CDKL5 Sequence Analysis.

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

CDKL5
Specificity
100 %
Genes
100 %
Atypical Rett Syndrome - CDKL5 Deletion/Duplication Analysis.

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

CDKL5
Specificity
100 %
Genes
100 %
Atypical Rett Syndrome - CDKL5 Known Point Mutation Analysis.

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

CDKL5
Specificity
100 %
Genes
100 %
Infantile Spasms/Atypical Rett Panel - MECP2, ARX, CDKL5 Sequence and Del/Dup Analysis.

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

MECP2, ARX, CDKL5
Specificity
34 %
Genes
100 %
Angelman/Rett Seq.

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

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, DYRK1A, PNKP, TCF4, ATRX, OPHN1, ZEB2, EHMT1
Specificity
6 %
Genes
100 %
Angelman/Rett Del/Dup.

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

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, FOLR1, MBD5, DYRK1A, PNKP, TCF4, ATRX, OPHN1, ZEB2, EHMT1
Specificity
6 %
Genes
100 %
CHOP Epilepsy Panel.

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

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, ALDH7A1, TPP1, CLN3, WWOX, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Angelman/ Rett Seq + Del/Dup.

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

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, FOLR1, MBD5, DYRK1A, PNKP, TCF4, ATRX, OPHN1, ZEB2, EHMT1
Specificity
6 %
Genes
100 %
West syndrome (sequence analysis of CDKL5 gene).

By CGC Genetics in Portugal.

CDKL5
Specificity
100 %
Genes
100 %
Epileptic encephalopathy, early infantile, 2.

By CGC Genetics in Portugal.

CDKL5
Specificity
100 %
Genes
100 %
Variant Rett Syndrome (sequence analysis of CDKL5 gene).

By CGC Genetics in Portugal.

CDKL5
Specificity
100 %
Genes
100 %
Rett syndrome, atypical (deletion/duplication analysis of CDKL5 gene).

By CGC Genetics in Portugal.

CDKL5
Specificity
100 %
Genes
100 %
Early infantile epileptic encephalopathy (NGS panel for 26 genes).

By CGC Genetics in Portugal.

STXBP1, SLC25A22, WWOX, ARX, CDKL5, PCDH19, SCN1A, SCN2A, GRIN2B, HCN1, KCNT1, KCNQ2, GABRA1, TBC1D24, DNM1, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Early infantile epileptic encephalopathy type 1, 2 and 3 (NGS panel for 3 genes).

By CGC Genetics in Portugal.

SLC25A22, ARX, CDKL5
Specificity
34 %
Genes
100 %
Epileptic encephalopathy (NGS panel for 67 genes).

By CGC Genetics in Portugal.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Rett and Rett-like syndrome (NGS panel of 8 genes).

By CGC Genetics in Portugal.

MECP2, CDKL5, FOXG1, MEF2C, MBD5, KCNA2, TCF4, IQSEC2
Specificity
13 %
Genes
100 %
Rett and Rett-like syndrome (NGS panel of 8 genes).

By CGC Genetics in Portugal.

MECP2, CDKL5, FOXG1, MEF2C, MBD5, KCNA2, TCF4, IQSEC2
Specificity
13 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ADSL, POLG, MECP2, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene.

By PreventionGenetics PreventionGenetics in United States.

CDKL5
Specificity
100 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, MBD5, WDR45, NRXN1, TCF4, CNTNAP2, ZEB2
Specificity
8 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Epileptic Encephalopathy, Early Infantile, 2.

By MGZ Medical Genetics Center in Germany.

CDKL5
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Epileptic Encephalopathy – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

POLG, MECP2, GAMT, STXBP1, ALDH7A1, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, PPT1, PHGDH, SCN1A, SCN2A, FOLR1, HCN1, KCNT1, KCNQ2, KCNC1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Angelman Syndrome and Differential Diagnoses.

By MGZ Medical Genetics Center in Germany.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SYNGAP1, MBD5, NEXMIF, NRXN1, DYRK1A, TCF4, CNTNAP2, ATRX, KDM5C, ZEB2, EHMT1, HERC2
Specificity
5 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
Epileptic encephalopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

UBE3A, MECP2, STXBP1, SLC25A22, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, SYNGAP1, SCN1A, SCN9A, SLC19A3, SCN1B, SCN2A, GRIN2B, KCNT1, KCNQ2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Epileptic syndromes with epilepsy and intellectual disability panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

UBE3A, HSD17B10, MECP2, STXBP1, SLC9A6, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PLP1, SYNGAP1, SMC1A, GPC3, GRIN2B, GRIN2A, MBD5, TBC1D24, DCX, PQBP1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Angelman-like syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CDKL5
Specificity
100 %
Genes
100 %
Early infantile epileptic encephalopathy type 2.

By Centogene AG - the Rare Disease Company in Germany.

CDKL5
Specificity
100 %
Genes
100 %
Epileptic encephalopathy, early infantile type 2.

By Centogene AG - the Rare Disease Company in Germany.

CDKL5
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders / Intellectual Disability Disorder.

By Michigan Medical Genetics Laboratories University of Michigan in United States.

UBE3A, SLC9A6, CDKL5, MBD5, TCF4, SHANK3, SHANK2, NLGN4X, NLGN3
Specificity
12 %
Genes
100 %
CDKL5 Gene Sequencing.

By Michigan Medical Genetics Laboratories University of Michigan in United States.

CDKL5
Specificity
100 %
Genes
100 %
Epileptic Encephalopathy Panel.

By CeGaT GmbH in Germany.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, MOCS2, MOCS1, ARX, CDKL5, FOXG1, MEF2C, PCDH19 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Epilepsy and X-linked Mental Retardation with Seizures Panel.

By CeGaT GmbH in Germany.

HSD17B10, MECP2, SLC9A6, ARX, CDKL5, PCDH19, OFD1, SMS, ATRX, IQSEC2, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Single gene testing CDKL5.

By CeGaT GmbH in Germany.

CDKL5
Specificity
100 %
Genes
100 %
Test for Epileptic Encephalopathy, Early Infantile, 2.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

CDKL5
Specificity
100 %
Genes
100 %
CYCLIN-DEPENDENT KINASE-LIKE 5.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CDKL5
Specificity
100 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, ADSL, HPRT1, NHS, MECP2, SLC6A8, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, PCDH19, PTPN11, RAI1, HDAC8, TSC2, RAD21, SMC3 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Epileptic encephalopathy, early infantile 2.

By Praxis fuer Humangenetik Wien in Austria.

CDKL5
Specificity
100 %
Genes
100 %
Angelman-like syndrome.

By Praxis fuer Humangenetik Wien in Austria.

CDKL5
Specificity
100 %
Genes
100 %
Rett-like syndrome.

By Praxis fuer Humangenetik Wien in Austria.

CDKL5
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
Angelman-like syndrome.

By MedGene in Slovakia.

CDKL5
Specificity
100 %
Genes
100 %
Epileptic encephalopathy, early infantile 2.

By MedGene in Slovakia.

CDKL5
Specificity
100 %
Genes
100 %
Rett-like syndrome.

By MedGene in Slovakia.

CDKL5
Specificity
100 %
Genes
100 %
Invitae Epilepsy Panel.

By Invitae in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
100 %
Invitae Early Infantile Epileptic Encephalopathy Panel.

By Invitae in United States.

STXBP1, SLC25A22, ALDH7A1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SMC1A, SCN1A, GABRB3, SCN9A, SCN2A, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Invitae Rett and Angelman Syndromes and Related Disorders Panel.

By Invitae in United States.

UBE3A, ADSL, MECP2, STXBP1, SLC9A6, ALDH5A1, CDKL5, FOXG1, MEF2C, MBD5, KANSL1, SCN8A, NRXN1, DYRK1A, TCF4, CNTNAP2, ATRX, IQSEC2, ZEB2, EHMT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Rett syndrome: CDKL5 gene sequence analysis.

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

CDKL5
Specificity
100 %
Genes
100 %
EPILEPSY HEREDITARY PANEL.

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

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Epileptic encephalopathies.

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

MECP2, STXBP1, SLC25A22, GCSH, GLDC, AMT, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, SCN2A, GRIN2B, HCN1, KCNQ2, CHD2, GABRA1, GRIN2A, MBD5 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Rett, Syndrome.

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

UBE3A, MECP2, STXBP1, ALDH5A1, ARX, CDKL5, FOXG1, MEF2C, PLP1, SCN2A, KCNQ2, TCF4, SHANK3, NTNG1, FOXP2, FOXP1, BDNF, HERC2
Specificity
6 %
Genes
100 %
Atypical Rett Syndrome: CDKL5 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CDKL5
Specificity
100 %
Genes
100 %
Atypical Rett Syndrome: CDKL5 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CDKL5
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Migraine NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

POLG, MECP2, GAMT, STXBP1, ALDH7A1, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, PPT1, PHGDH, SCN1A, CACNA1A, ATP1A2, FOLR1, KCNQ2, PNPO
Specificity
6 %
Genes
100 %
Rett-Angelman Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, MECP2, SLC9A6, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, PNKP, TCF4, CNTNAP2, ATRX, OPHN1, ZEB2, CAV1, MED17, TRAPPC9
Specificity
6 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
CDKL5.

By Fulgent Genetics Fulgent Genetics in United States.

CDKL5
Specificity
100 %
Genes
100 %
Essential Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, POLG, MECP2, GAMT, STXBP1, SLC25A22, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CHRNB2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8 , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Rett syndrome atypical.

By Bioarray in Spain.

CDKL5
Specificity
100 %
Genes
100 %
Angelman syndrome.

By Bioarray in Spain.

CDKL5
Specificity
100 %
Genes
100 %
Rett syndrome NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MECP2, CDKL5
Specificity
50 %
Genes
100 %
Rett Plus Atypical Rett Syndrome Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MECP2, CDKL5, FOXG1, MEF2C
Specificity
25 %
Genes
100 %
CDKL5 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CDKL5
Specificity
100 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

STXBP1, SLC25A22, ARX, CDKL5, KCNQ2, SPTAN1
Specificity
17 %
Genes
100 %
RETT SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

MECP2, CDKL5, FOXG1
Specificity
34 %
Genes
100 %
INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

STXBP1, SLC25A22, ARX, CDKL5, PCDH19, SCN1A, SCN2A, HCN1, KCNQ2, KCNB1, SLC13A5, GNAO1, SCN8A, PLCB1, SPTAN1, PNKP, ARHGEF9, NECAP1
Specificity
6 %
Genes
100 %
Atypical Rett Syndrome, Sequencing CDKL5 Gene.

By Reference Laboratory Genetics in Spain.

CDKL5
Specificity
100 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Type 2 , Sequencing CDKL5 Gene.

By Reference Laboratory Genetics in Spain.

CDKL5
Specificity
100 %
Genes
100 %
Atypical Rett Syndrome, Deletions-Duplications (MLPA) CDKL5 Gene.

By Reference Laboratory Genetics in Spain.

CDKL5
Specificity
100 %
Genes
100 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.

By Reference Laboratory Genetics in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Types 1,2 and 3 , Panel Massive Sequencing (NGS) (ARX, CDKL5, SLC25A22) Genes.

By Reference Laboratory Genetics in Spain.

SLC25A22, ARX, CDKL5
Specificity
34 %
Genes
100 %
Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

UBE3A, MECP2, STXBP1, ALDH5A1, ARX, CDKL5, FOXG1, MEF2C, PLP1, SCN2A, KCNQ2, TCF4, SHANK3, NTNG1, FOXP2, FOXP1, BDNF, HERC2
Specificity
6 %
Genes
100 %
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

SLC25A12, STXBP1, ARX, CDKL5, PCDH19, SCN1A, CACNA1A, GABRB3, SCN9A, SCN2A, GRIN2B, HCN1, KCNQ2, GABRA1, ALG13, TBC1D24, DNM1, ST3GAL3, SCN8A, PIGA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

GAA, STXBP1, SLC25A22, GBE1, ARX, CDKL5, DMPK, PCDH19, CHRNE, SCN1A, CLCN1, SCN4A, CACNA1A, ATP2A1, CACNA1S, RYR1, CHRNA1, CHRND, CHRNB1, CHRNB2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Early infantile epileptic encephalopathy 2.

By Labor Dr. Wisplinghoff in Germany.

CDKL5
Specificity
100 %
Genes
100 %
Angelman syndrome-like.

By Labor Dr. Wisplinghoff in Germany.

CDKL5
Specificity
100 %
Genes
100 %

Alternate names

Epileptic Encephalopathy, Early Infantile, 2; Eiee2 Is also known as infantile spasm syndrome, x-linked 2;issx2.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

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