Stomatin-deficient Cryohydrocytosis With Neurologic Defects; Sdchcn

Description

Stomatin-deficient cryohydrocytosis with neurologic defects is an autosomal dominant disorder characterized by delayed psychomotor development, seizures, cataracts, and pseudohyperkalemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features of Glut1 deficiency syndrome-1 (GLUT1DS1 ), resulting from impaired glucose transport at the blood-brain barrier, and hemolytic anemia/pseudohyperkalemia with stomatocytosis, resulting from a cation leak in erythrocytes (summary by Bawazir et al., 2012).For a discussion of clinical and genetic heterogeneity of red cell stomatocyte disorders, see {194380}.

Clinical Features

Top most frequent phenotypes and symptoms related to Stomatin-deficient Cryohydrocytosis With Neurologic Defects; Sdchcn

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Cataract
  • Spasticity
  • Hepatomegaly
And another 23 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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Stomatin-deficient Cryohydrocytosis With Neurologic Defects; Sdchcn Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC2A1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SLC2A1
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)

View the complete list with 64 more genes
Specificity
2 %
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 - Epilepsy with Migraine.

By Athena Diagnostics Inc in United States.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, PRRT2
Specificity
15 %
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 %
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 %
Hereditary Spastic Paraplegia Panel.

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

C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)

View the complete list with 59 more genes
Specificity
2 %
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 %
Dystonia.

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

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 57 more genes
Specificity
2 %
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 %
Migraine and Strokes Panel.

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

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, COL4A1, HTRA1
Specificity
13 %
Genes
100 %
Movement Disorders Panel.

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

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1, COL4A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, ATP11C, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG
Specificity
7 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
SLC2A1 (GLUT1) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1 (GLUT1) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1
Specificity
100 %
Genes
100 %
Hemolytic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Red Blood Cell Membrane Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG
Specificity
8 %
Genes
100 %
SLC2A1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

SLC2A1
Specificity
100 %
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 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
SLC2A1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

SLC2A1
Specificity
100 %
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 %
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 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
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 %
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 %
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 %
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 %
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.

By Ambry Genetics in United States.

POLG, MECP2, STXBP1, ALDH7A1, PCDH19, SLC2A1, TSC2, TSC1, SCN1A, FOLR1, KCNT1, KCNQ2, KCNQ3, PNPO, PRRT2, SCN8A
Specificity
7 %
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 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

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

MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
SLC2A1. Complete sequencing.

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

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1. MLPA testing.

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

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1. Complete sequencing.

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

SLC2A1
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 %
SLC2A1. Complete sequencing.

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

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter Type 1 Deficiency Syndrome - SLC2A1 Sequence and Del/Dup Analysis.

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

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter Type 1 Deficiency Syndrome - SLC2A1 Sequence Analysis.

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

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter Type 1 Deficiency Syndrome - SLC2A1 Deletion/Duplication Analysis.

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

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter Type 1 Deficiency Syndrome - SLC2A1 Known Point Mutation Analysis.

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

SLC2A1
Specificity
100 %
Genes
100 %
Rapid Epilepsy Seq Analysis.

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

POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A
Specificity
6 %
Genes
100 %
Rapid Epilepsy Seq + Del/Dup Panel.

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

POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A
Specificity
6 %
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 %
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 %
Rapid Epilepsy Del/Dup Panel.

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

POLG, GAMT, GATM, ALDH7A1, SLC6A8, SLC2A1, CSTB, SCN1A, NHLRC1, SCN2A, GRIN2B, KCNQ2, PNPO, EPM2A, GRIN2A, KCNB1, SCN8A
Specificity
6 %
Genes
100 %
GLUT1 deficiency syndrome 1 (sequence analysis of SLC2A1 gene).

By CGC Genetics in Portugal.

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter Type 1 Deficiency Syndrome (deletion/duplication analysis of SLC2A1 gene).

By CGC Genetics in Portugal.

SLC2A1
Specificity
100 %
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 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...)

View the complete list with 23 more genes
Specificity
3 %
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 %
GLUT1 Deficiency Syndrome via SLC2A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC2A1
Specificity
100 %
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 %
Dystonia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TAF1, TUBB4A, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MECP2, STXBP1, TUSC3, ACSL4, SLC9A6, SLC6A8, ARX, FOXG1, MEF2C, SLC2A1, SMC1A, SCN2A, GRIN2B, CHD2, MBD5, TBC1D24, DEAF1, PQBP1, SCN8A, GRIN1 , (...)

View the complete list with 90 more genes
Specificity
1 %
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 %
Glucose Transporter Type 1 Deficiency Syndrome.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter Type 1 Deficiency Syndrome.

By MGZ Medical Genetics Center in Germany.

SLC2A1
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 %
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 %
Ataxia.

By MGZ Medical Genetics Center in Germany.

ARG1, BCKDHA, BCKDHB, C12orf65, CPS1, POLG, TTC19, COQ8A, DARS2, OTC, PDHA1, ABCB7, DBT, IVD, SLC25A15, ASS1, APTX, ASL, TACO1, SLC2A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
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 %
Episodic Ataxia and Phenocopies.

By MGZ Medical Genetics Center in Germany.

ACADVL, ARG1, BCKDHA, BCKDHB, CPS1, CPT2, DARS2, PNPLA2, OTC, PDHA1, ABHD5, DBT, IVD, SLC25A15, ETFB, ETFA, ETFDH, ASS1, SLC22A5, ASL , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Familial Hemiplegic Migraine.

By MGZ Medical Genetics Center in Germany.

SLC2A1, SCN1A, CACNA1A, ATP1A2, ATP1A3
Specificity
20 %
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 %
Glucose transporter (GLUT1) defect (SLC2A1).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

SLC2A1
Specificity
100 %
Genes
100 %
Epilepsy with paroxysmal disorders panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SLC2A1, CACNA1A, ATP1A2, KCNMA1, PRRT2
Specificity
20 %
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 %
IGE/JME/CAE panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ME2, SLC2A1, CASR, CACNB4, CACNA1H, EFHC1, GABRB3, GABRD, GABRA1, CLCN2, BRD2
Specificity
10 %
Genes
100 %
Metabolic disease with epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MTHFR, ADSL, CPT2, GAMT, CTSD, GCSH, GLDC, AMT, ALDH7A1, TPP1, CLN3, SLC2A1, CLN6, CLN8, PPT1, CLN5, FOLR1, PNPO, DNAJC5, MFSD8 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
DYT18 - dystonia 18.

By Centogene AG - the Rare Disease Company in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia.

By Centogene AG - the Rare Disease Company in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
Epilepsy, idiopathic generalized type 12.

By Centogene AG - the Rare Disease Company in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
GLUT1 deficiency syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

SLC2A1
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 %
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 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH in Germany.

AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Migraine Panel.

By CeGaT GmbH in Germany.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, SLC1A3, ATP1A2, ATP1A3, PRRT2, KCNK18
Specificity
10 %
Genes
100 %
Episodic Ataxia Panel.

By CeGaT GmbH in Germany.

SLC2A1, CACNA1A, KCNA1, CACNB4, SLC1A3, FGF14, KCNQ2
Specificity
15 %
Genes
100 %
Paroxysmal Dyskinesia Panel.

By CeGaT GmbH in Germany.

PNKD, SLC2A1, KCNMA1, PRRT2, SCN8A, ADCY5
Specificity
17 %
Genes
100 %
Paroxysmal Movement Disorders Panel.

By CeGaT GmbH in Germany.

PNKD, SLC2A1, KCNMA1, PRRT2
Specificity
25 %
Genes
100 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Single gene testing SLC2A1.

By CeGaT GmbH in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
Childhood absence epilepsy.

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

SLC2A1, CACNA1H, GABRB3, GABRA1, GABRG2, JRK
Specificity
17 %
Genes
100 %
Glucose transporter type 1 deficiency syndrome.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia 9 (SLC2A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia 9, SLC2A1.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1-MLPA.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1-MLPA.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies.

By BLOODGENETICS BLOODGENETICS in Spain.

ALDOA, ABCB6, GPX1, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, SLC2A1, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, ABCG5, ABCG8, SLC4A1, GYPC , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Glucose Transporter Type 1 Deficiency Syndrome.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia 18.

By Praxis fuer Humangenetik Wien in Austria.

SLC2A1
Specificity
100 %
Genes
100 %
GLUT1 definciency syndrome.

By Praxis fuer Humangenetik Wien in Austria.

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1.

By Division Human Genetics Medical University Innsbruck in Austria.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia 18.

By MedGene in Slovakia.

SLC2A1
Specificity
100 %
Genes
100 %
GLUT1 definciency syndrome.

By MedGene in Slovakia.

SLC2A1
Specificity
100 %
Genes
100 %
Invitae Dystonia Comprehensive Panel.

By Invitae in United States.

SPR, PRKN, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TUBB4A, SLC6A3, PRKRA, ANO3, GNAL
Specificity
7 %
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 Glucose Transporter Type 1 (GLUT1) Deficiency Syndrome Test.

By Invitae in United States.

SLC2A1
Specificity
100 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
GLUT1 deficiency syndrome: SLC2A1 gene sequence analysis.

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

SLC2A1
Specificity
100 %
Genes
100 %
GLUT1 deficiency syndrome: SLC2A1 gene sequence analysis (exon 4).

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

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia 18: sequencing of SLC2A1 gene..

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

SLC2A1
Specificity
100 %
Genes
100 %
MIGRAINE.

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

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2
Specificity
17 %
Genes
100 %
DYSTONIA.

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

PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA
Specificity
8 %
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 %
Glucose Transporter Type 1 Deficiency Syndrome: SLC2A1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter Type 1 Deficiency Syndrome: SLC2A1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SLC2A1
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 %
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 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
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 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1 , (...)

View the complete list with 20 more genes
Specificity
3 %
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 %
Hemiplegia/Stroke NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

POLG, OTC, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, ATP1A3, COL4A1, COL4A2
Specificity
10 %
Genes
100 %
SLC2A1.

By Fulgent Genetics Fulgent Genetics in United States.

SLC2A1
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 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Epilepsy Panel.

By Blueprint Genetics in Finland.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, POLG, FH, DNM1L, ABAT, GAMT, GLDC, AMT, ETHE1, D2HGDH, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR , (...)

View the complete list with 21 more genes
Specificity
3 %
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 %
Migraine Panel.

By Blueprint Genetics in Finland.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, SLC1A3, ATP1A2, ATP1A3, PRRT2, KCNK18
Specificity
10 %
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 %
Idiopathic Generalized and Focal Epilepsy Panel.

By Blueprint Genetics in Finland.

AMACR, POLG, ALDH7A1, SLC2A1, SCN1A, CASR, KCNA1, CACNB4, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Congenital Mono- and Disaccharide Disorders Panel.

By Blueprint Genetics in Finland.

ALDOB, GALT, GALE, GALK1, SLC2A1, SLC2A2, SI, LCT, SLC5A1
Specificity
12 %
Genes
100 %
Dystonia Panel.

By Blueprint Genetics in Finland.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, FA2H, ATP1A3, PRRT2, DCAF17, PRKRA, PDGFRB, PDGFB, KMT2B, ANO3, BCAP31, GNAL, ADCY5
Specificity
5 %
Genes
100 %
Paroxysmal exertion-induced dyskinesia.

By Bioarray in Spain.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia 9.

By Bioarray in Spain.

SLC2A1
Specificity
100 %
Genes
100 %
SLC2A1 Gene Sequencing and Deletion/Duplication Analysis.

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

SLC2A1
Specificity
100 %
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 %
GLUT1 DEFICIENCY SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia 9.

By LifeLabs Genetics in Canada.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia type 18.

By LifeLabs Genetics in Canada.

SLC2A1
Specificity
100 %
Genes
100 %
Epilepsy, idiopathic generalized type 12.

By LifeLabs Genetics in Canada.

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter (GLUT1) Deficiency Syndrome, Sequencing SLC2A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter (GLUT1) Deficiency Syndrome , Sequencing Exon 4 SLC2A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC2A1
Specificity
100 %
Genes
100 %
Glucose Transporter (GLUT1) Deficiency Syndrome , Deletions-Duplications (MLPA) SLC2A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC2A1
Specificity
100 %
Genes
100 %
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA
Specificity
8 %
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 %
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2
Specificity
17 %
Genes
100 %

Alternate names

Stomatin-deficient Cryohydrocytosis With Neurologic Defects; Sdchcn Is also known as glut1 deficiency syndrome with pseudohyperkalemia and hemolysis, cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly;chc type 2; hereditary cryohydrocytosis type 2; stomatin-deficient cryohydrocytosis; sdchc.


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