NBN

OMIMHGNC

Synonym(s): ATV, AT-V2, AT-V1, NBS, NBS1

Locus: 8q21-q24

Protein: NBN protein

 

Disorders

Tests

Test Type
Molecular (72)
Cytogenetic (3)
Panel (54)
Test Method
Chromosome Breakage (1)
Del/Dup (CNV) (22)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (8)
Genotyping (Microarray, Beads, etc.) (3)
Sequencing, Next Gen (48)
Prenatal/Carrier
Prenatal (7)
Carrier (30)
Lab Location
Estonia(1)
USA(44)
Spain(6)
Portugal(1)
Poland(7)
Australia(1)
Turkey(1)
United Kingdom(2)
Germany(10)
 
TAT: 2-4 weeks
price: contact lab
CancerNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-4 weeks
price: contact lab
BreastNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4-6 weeks
price: contact lab
Breast and Ovarian Cancer Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 4 weeks
price: contact lab
Nijmegen Breakage Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
University of California Los Angeles, UCLA Orphan Disease Testing Center (ODTC) - Los Angeles, CA, USA
TAT: 4 weeks
price: contact lab
Breast Cancer Panel
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
Breast, Ovarian, Prostate Cancer Test (genetic predisposition) - the NBS1 gene mutation carrier test (657del5)
method(s): ◦ Mutation Scanning of Select Exons 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Prostate Cancer Test (genetic predisposition ) - panel (CHEK2 - four mutations, BRCA1, NBS1)
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
myRisk® Test
method(s): ◦ Sequencing, Next Gen 
Genetic Technologies Pty Ltd - Victoria, Australia
TAT: 11-12 weeks
price: contact lab
NBN Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 2 weeks
price: contact lab
Nijmegen Syndrome
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, Sequencing, and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Hereditary Cancer Syndrome: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Russell-Silver Panel, UPD14 Analysis, Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Sequencing, and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-4 weeks
price: $1,060.00
Nijmegen Breakage Syndrome via the NBN Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $2,490.00
Chromosomal Instability Syndromes NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $2,990.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC Expanded NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $3,290.00
Cancer NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Nijmegen Breakage Syndrome via the NBN Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,790.00
Chromosomal Instability Syndromes Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,090.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC Expanded Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $4,090.00
Cancer Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 7-8 weeks
price: contact lab
NGS of genes: BLM, GPC3, NBN, NSD1, RAD50, WT1.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the NBN gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 16-20 weeks
price: contact lab
Chromosome Breakage Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 4-5 weeks
price: contact lab
Nijmegen Breakage Syndrome
method(s): ◦ Chromosome Breakage 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 8-9 weeks
price: contact lab
Microcephaly Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-4 weeks
price: contact lab
Breast/Ovarian Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Nijmegen Breakage Syndrome Test (the NBS1 gene - the most common mutation)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Primary Immunodeficiency Gene Panel
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: 4-5 weeks
price: contact lab
NBN deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 12-13 weeks
price: contact lab
Chromosome Breakage Syndrome Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-5 weeks
price: contact lab
Chromosome Breakage Syndrome Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 2-3 weeks
price: $1,500.00
Nijmegen breakage syndrome
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Hereditary cancer syndromes
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Hereditary breast and gynecologic cancers (Women's hereditary cancers)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 7-10 days
price: contact lab
Nijmegen Breakage Syndrome
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
Ataxia Telangiectasia (Nijmegen Breakage Syndrome) , Deletion NBN Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
Hereditary Cancer Panel 170 PLUS
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hereditary Cancer Panel 'For Him'
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hereditary Cancer Panel 'For Her'
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Nijmegen breakage syndrome (sequence analysis of NBN gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Oncology Genetic Panel , Massive Sequencing (NGS) 68 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Nijmegen breakage syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Hyper IgM Syndrome Panel, Sequencing (12 Genes) and Deletion/Duplication (10 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 2-4 weeks
price: contact lab
CancerNext - Expanded
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-4 weeks
price: contact lab
OvaNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4-6 Weeks
price: contact lab
Breast Ovarian Cancer
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Chromosomal Instability Syndromes
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
GATAD8
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hereditary Cancer
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Chromosome Breakage Syndrome Panel
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: 4-6 weeks
price: contact lab
Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Tier 2: Hereditary Lymphoma Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-3 weeks
price: $1,500.00
Hereditary breast cancer, extended panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Hereditary breast cancer, moderate-risk panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
NBN-Related Cancer Risk
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
Oncology, Panel
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Breast and Ovarian Hereditary Cancer, Panel Massive Sequencing (NGS) 28 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 7-8 weeks
price: contact lab
Hereditary Cancer Syndromes, Comprehensive Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Breast Cancer
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Ovarian Cancer – Basic Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Ovarian Cancer
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Colorectal Cancer
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 5-6 weeks
price: contact lab
Breast Cancer - expanded panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 8-10 weeks
price: contact lab
Cancer: Familial/Multiple Cancer (Not Specified) Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 8-10 weeks
price: contact lab
Cancer: Hereditary Colorectal Cancer Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

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