KRIT1

OMIMHGNC

Synonym(s): CAM, CCM1

Locus: 7q21.2

Protein: Krev interaction trapped protein 1

 

Disorders

Tests

Test Type
Molecular (50)
Multi-Gene Panel (32)
Multi-Method Panel (17)
Test Method
Del/Dup (CNV) (26)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (19)
Sequencing, Next Gen (22)
Prenatal/Carrier
Prenatal (30)
Carrier (20)
Lab Location
Spain(7)
Portugal(6)
USA(29)
Germany(3)
Canada(2)
Netherlands(1)
Finland(2)
 
TAT: 4-8 weeks
price: contact lab
Familial Cerebral Cavernous Malformation Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
TAT: 2-3 weeks
price: $1,470.00
Cerebral cavernous malformations 1 (CCM1)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Cerebral cavernous malformations 1 (CCM1)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,800.00
Cerebral cavernous malformations NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $800.00
Cerebral cavernous malformations NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-5 weeks
price: contact lab
Detection of mutation c.1363C>T on the KRIT1 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the KRIT1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Detection of deletions and/or duplications in KRIT1, CCM2 y PDCD10 genes by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-4 weeks
price: contact lab
CCM Del/Dup Panel
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
CCM Tier 1
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 6-8 weeks
price: contact lab
CCM Tier 2
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 6-8 weeks
price: contact lab
Cerebral Cavernous Malformations (CCM) Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 1-2 weeks
price: $890.00
Cerebral cavernous malformations 1 (CCM1)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,100.00
Cerebral cavernous malformations NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Familial Cerebral Cavernous Malformation Type 1, Sequencing KRIT1 (CCM1) Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Familial Cerebral Cavernous Malformation Type 1, Screening Mutations KRIT1 (CCM1) Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Familial Cerebral Cavernous Malformation Types 1 and 3 , Deletions-Duplications (MLPA) KRIT1, PDCD10 Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Familial Cerebral Cavernous Malformation Types 1,2 and 3, Sequencing CCM1,CCM2,CCM3 Genes
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 10-12 weeks
price: contact lab
Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication, 3 Genes
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Cerebral Cavernous Malformation (CCM) Sequencing, 3 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 2-3 weeks
price: contact lab
Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 3-4 weeks
price: contact lab
Vascular Malformations Deletion/Duplication, 14 Genes
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Vascular Malformations Sequencing, 14 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cerebral cavernous malformations, hereditary (sequence analysis of KRIT1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Cerebral cavernous malformations, hereditary (mutation c.1363C >T on KRIT1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Cerebral cavernous malformations type 1 (deletion/duplication analysis of KRIT1 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Cerebral cavernous malformations (NGS panel for 3 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Cerebral Cavernous Malformation: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cerebral Cavernous Malformation: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-6 weeks
price: contact lab
Vascular and lymphatic disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 11-13 weeks
price: $1,880.00
Vascular Malformations NGS Multi-Gene Panel (21 Genes)
method(s): ◦ Sequencing, Next Gen 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 4-6 Weeks
price: contact lab
Cerebral Cavernous Malformations 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
KRIT1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-8 weeks
price: contact lab
Cerebral Cavernous Malformation, KRIT1 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 2-4 weeks
price: $1,590.00
Vascular malformations NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,150.00
Vascular malformations NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,590.00
Vascular malformations NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Cerebral Cavernous Malformation Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $690.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $770.00
Cerebral Cavernous Malformations Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $960.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $250.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10 Common Hispanic Mutation Detection
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Cerebral Cavernous Malformations Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 11-12 weeks
price: contact lab
Hereditary cerebral cavernous malformation NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
TAT: 8-10 weeks
price: contact lab
NGS Vascular Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: ~2 weeks
price: contact lab
Cerebral cavernous malformations type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Cerebral Cavernous Malformations Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA