NOTCH3

OMIMHGNC

Synonym(s): CASIL, CADASIL

Locus: 19p13.12

Protein: Neurogenic locus notch homolog protein 3

 

Disorders

Tests

Test Type
Molecular (78)
Multi-Gene Panel (43)
Multi-Method Panel (24)
Test Method
Del/Dup (CNV) (25)
Mutation Scanning of Select Exons (5)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (27)
Repeat Expansion / Contraction (5)
Sequencing, Next Gen (51)
Prenatal/Carrier
Prenatal (14)
Carrier (27)
Lab Location
Spain(12)
Portugal(5)
Canada(3)
Germany(17)
USA(23)
Czech Republic(1)
Korea, Republic of(1)
Turkey(3)
Poland(4)
United Kingdom(1)
Bulgaria(1)
Finland(3)
Austria(4)
 
TAT: 2-4 weeks
price: contact lab
CADASIL Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
CADASIL (sequence analysis of NOTCH3 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
CADASIL Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Test
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
TAT: 3-5 weeks
price: contact lab
CADASIL Test
method(s): ◦ Sequencing, Capillary (Sanger) 
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Ontario, Canada
CADASIL test
method(s): ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 3-4 weeks
price: contact lab
Cadasil Disease (Exon 3, 4, 5, 6)
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
CADASIL
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the NOTCH3 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Mutations in exons 2, 3 and 4 of the NOTCH3 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Mutations in exons 5, 6 and 11 of the NOTCH3 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 38 genes: ABCD1, ARSA,ASPA,CSF1R,EIF2B1 ,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GALC,GFAP, GJ C2,HSPD1,MLC1,NOTCH3,PEX1,PEX2,PEX3,PEX5,PEX6,PEX7 ,PEX10,PEX12,PEX13,PEX14, PEX26,PLP1,POLR3A,PSAP,R NASEH2A,RNASEH2B,RNASEH2C,SAMHD1,SDHA,SOX10,SUMF1, TREX
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-6 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
CADASIL Syndrome, Sequencing Exons (3-4) NOTCH 3 Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
CADASIL Syndrome, Sequencing Exons (2,5,6,11) NOTCH 3 Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
CADASIL Syndrome, Sequencing NOTCH3 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Brain Development Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Ion Channel Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Epilepsy Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
CADASIL (sequence analysis of exons 2 to 6 and 11 of NOTCH3 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
CADASIL (sequence analysis of exons 1, 7-10, 12-33 of NOTCH3 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Migraine
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
CADASIL Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
CADASIL
method(s): ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
CADASIL [Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy
method(s): ◦ Sequencing, Capillary (Sanger) 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TAT: 2-4 weeks
price: $990.00
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-5 weeks
price: contact lab
CADASIL syndrome (NOTCH3 sequencing)
method(s): ◦ Sequencing, Capillary (Sanger) 
Cidegen, SL - Salamanca, Spain
CADASIL Syndrome, Deletions-Duplications (MLPA) NOTCH3 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-5 weeks
price: contact lab
Teenager Stroke / Stroke-Like Episodes
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Brain Malformations / Neuronal Migration Disorders
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
NOTCH3
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukencephalopathy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Migraine Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Frontotemporal Dementia (FTD) Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Dementia all Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Small Vessel Disease Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Single gene testing NOTCH3
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Leukodystrophies, Panel Massive Sequencing (NGS) 58 genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: $990.00
Lateral meningocele syndrome (LMS)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 7-10 days
price: $350.00
Lateral meningocele syndrome (LMS) Exon 33 Only
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Lateral meningocele syndrome (LMS)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $1,570.00
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 8-10 weeks
price: contact lab
Comprehensive Neurogenetics Panel (290 genes)
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
CADASIL Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 2-4 weeks
price: $1,570.00
Lateral meningocele syndrome (LMS)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
CADASIL Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
TAT: 2-4 weeks
price: contact lab
Comprehensive Dementia (NextGen Sequencing Panel and Copy Number Analysis; 91 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 91 genes)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 102 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Non-Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 53 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-3 weeks
price: contact lab
Hemiplegia / Stroke NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Leukoencephalopathy NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
NOTCH3
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Infantile myofibromatosis 2 (sequence analysis of NOTCH3 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4 weeks
price: contact lab
CADASIL: NOTCH3 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 1-2 weeks
price: $1,350.00
Lateral meningocele syndrome (LMS) Exons 1-32 Only
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukoencephalopathy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 3-4 weeks
price: contact lab
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Leukodystrophy and Leukoencephalopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Migraine Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-5 weeks
price: $990.00
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) via the NOTCH3 Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Leukoencephalopathy (Leukenzephalopathie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
CADASIL /CARASIL (CADASIL /CARASIL)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Metachromatic Leukodystrophy (Metachromatische Leukodystrophie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Migraine, familial (Migräne familiäre)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 8-10 weeks
price: contact lab
Adult onset dementia and psychosis
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: ~2 weeks
price: contact lab
CADASIL
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Comprehensive Dementia (NextGen Sequencing Panel, Copy Number Analysis, and HTT Repeat Expansion Analysis; 91 genes)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 + HTT Repeat Expansion Analysis; 91 genes)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 3-5 weeks
price: $1,390.00
Infantile Myofibromatosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Migraine Spotlight Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA