Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1; Cadasil1

Description

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1; Cadasil1

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Milia
  • Cognitive impairment
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy
  • Dysarthria
And another 80 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1; Cadasil1 have a estimated prevalence of 3 per 100k worldwide.


Mendelian

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Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1; Cadasil1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Complete CASASIL Evaluation.

By Athena Diagnostics Inc in United States.

NOTCH3
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 - Epilepsy with Migraine.

By Athena Diagnostics Inc in United States.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, PRRT2
Specificity
15 %
Genes
100 %
NOTCH3 (CADASIL) Sequencing Test.

By Athena Diagnostics Inc in United States.

NOTCH3
Specificity
100 %
Genes
100 %
Cadasil (NOTCH3).

By Center for Human Genetics, Inc in United States.

NOTCH3
Specificity
100 %
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 %
CADASIL.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

NOTCH3
Specificity
100 %
Genes
100 %
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

NOTCH3
Specificity
100 %
Genes
100 %
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY.

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

NOTCH3
Specificity
100 %
Genes
100 %
NOTCH3. Sequencing of the exons 3 and 4.

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

NOTCH3
Specificity
100 %
Genes
100 %
NOTCH3. Sequencing of the exons 2, 5, 6 and 11.

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

NOTCH3
Specificity
100 %
Genes
100 %
NOTCH3. Complete sequencing.

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

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL (NOTCH3) Sequencing.

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

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL (sequence analysis of exons 2 to 6 and 11 of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL (sequence analysis of 1, 7-10, 12-33 exons of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL (sequence analysis of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
100 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Infantile myofibromatosis 2 (sequence analysis of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL (deletion/duplication analysis of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL (deletion/duplication analysis of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By Exeter Molecular Genetics Laboratory in United Kingdom.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL1 via the NOTCH3 Gene.

By PreventionGenetics PreventionGenetics in United States.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL and CARASIL Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NOTCH3, HTRA1
Specificity
50 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Infantile Myofibromatosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NOTCH3, PDGFRB
Specificity
50 %
Genes
100 %
Cerebral small vessel disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
100 %
CADASIL Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

NOTCH3, HTRA1
Specificity
50 %
Genes
100 %
CADASIL Comprehensive panel.

By Connective Tissue Gene Tests in United States.

NOTCH3, HTRA1
Specificity
50 %
Genes
100 %
Cerebral small vessel disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
100 %
CADASIL NGS panel.

By Connective Tissue Gene Tests in United States.

NOTCH3, HTRA1
Specificity
50 %
Genes
100 %
Cerebral small vessel disease NGS panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
100 %
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 NGS test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
100 %
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 Comprehensive test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
100 %
Lateral meningocele syndrome NGS test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
100 %
Lateral meningocele syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
100 %
Lateral meningocele syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
100 %
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

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

NOTCH3
Specificity
100 %
Genes
100 %
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy.

By MGZ Medical Genetics Center in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

ELN, SARS2, CFTR, ENG, NOTCH3, CAV3, COL4A1, NOTCH1, ACVRL1, BMPR1B, CCNO, DNAAF4, KCNK3, CAV1, SMAD9, DNAAF3, DNAAF1, RSPH9, RSPH4A, DNAAF2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
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 %
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 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

TTR, COL3A1, AMACR, POLG, FBN1, OTC, CBS, GLA, NOTCH3, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, TGFB2, TGFBR1, TGFBR2, SLC2A10, ABCC6, ADA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
CADASIL.

By Bioscientia GmbH Center for Human Genetics in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By Centogene AG - the Rare Disease Company in Germany.

NOTCH3
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 %
CADASIL.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 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 %
Frontotemporal Dementia (FTD) Panel.

By CeGaT GmbH in Germany.

PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Small vessel disease Panel.

By CeGaT GmbH in Germany.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1
Specificity
17 %
Genes
100 %
Dementia all Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Single gene testing NOTCH3.

By CeGaT GmbH in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Cerebral small vessel disease.

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

GLA, NOTCH3, COL4A1, TREX1, HTRA1, COL4A2
Specificity
17 %
Genes
100 %
CADASIL, NOTCH3.

By GGA - Galil Genetic Analysis in Israel.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL, NOTCH3.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

PSAP, HSPD1, SCP2, DARS2, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
CADASIL, NOTCH3 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

NOTCH3
Specificity
100 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Pulmonary Hypertension Panel.

By Health in Code in Spain.

SMAD4, ENG, NOTCH3, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, SMAD1
Specificity
9 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Pulmonary hypertension Panel.

By Health in Code in Spain.

FOXF1, SMAD4, ENG, NOTCH3, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4, SMAD1, TOPBP1
Specificity
7 %
Genes
100 %
Test for CADASIL.

By Secugen SL in Spain.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By Praxis fuer Humangenetik Wien in Austria.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By MedGene in Slovakia.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL syndrome: NOTCH3 gene sequence analysis.

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

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL syndrome: NOTCH3 gene sequence analysis (exons 2, 5, 6, 11).

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

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL syndrome: NOTCH3 gene sequence analysis (exons 3-4).

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

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL syndrome: NOTCH3 gene deletions-duplications analysis (MLPA).

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

NOTCH3
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 %
Leukodistrophy.

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

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center in Netherlands.

TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B , (...)

View the complete list with 21 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 %
Leukoencephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PTEN, PSAP, HSPD1, SCP2, ABAT, SLC25A12, DARS2, ALDH3A2, ACOX1, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3 , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %
NOTCH3.

By Fulgent Genetics Fulgent Genetics in United States.

NOTCH3
Specificity
100 %
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 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
2 %
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 %
CADASIL.

By Bioarray in Spain.

NOTCH3
Specificity
100 %
Genes
100 %
Next Generation Sequencing for FHM, EA2, SCA6, CADASIL, Epilepsy.

By Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology in Australia.

SCN1A, NOTCH3, CACNA1A, ATP1A2
Specificity
25 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
CADASIL (CEREBRAL ARTERIOPATHY).

By Laboratorio de Genetica Clinica SL in Spain.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL Syndrome, Sequencing NOTCH3 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL Syndrome, Sequencing Exons (3-4) NOTCH 3 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL Syndrome, Sequencing Exons (2,5,6,11) NOTCH 3 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL Syndrome, Deletions-Duplications (MLPA) NOTCH3 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH3
Specificity
100 %
Genes
100 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7 , (...)

View the complete list with 36 more genes
Specificity
2 %
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 %
CADASIL.

By Labor Dr. Wisplinghoff in Germany.

NOTCH3
Specificity
100 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Lateral Meningocele Syndrome (Lehman Syndrome): gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NOTCH3
Specificity
100 %
Genes
100 %

Alternate names

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1; Cadasil1 Is also known as cadasil, dementia, hereditary multi-infarct type, casil;cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; hereditary multi-infarct dementia.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES; BSVD

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