Nijmegen Breakage Syndrome; Nbs

Description

The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. Ataxia-telangiectasia variant-1 is the designation applied to the Nijmegen breakage syndrome and AT variant-2 is the designation for the Berlin breakage syndrome, which differ only in complementation studies. Cells from NBS/BBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from those of ataxia-telangiectasia (AT ), but NBS/BBS patients have a distinct clinical phenotype.The clinical features of LIG4 syndrome (OMIM ), caused by mutation in the LIG4 gene (OMIM ), resemble those of NBS.

Clinical Features

Top most frequent phenotypes and symptoms related to Nijmegen Breakage Syndrome; Nbs

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica
  • Microcephaly
  • Ataxia
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Muscle weakness
And another 88 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 Nijmegen Breakage Syndrome; Nbs have a estimated birth prevalence of 1 per 100k in Europe.


Mendelian

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Nijmegen Breakage Syndrome; Nbs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
6 %
Genes
100 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
6 %
Genes
100 %
Hereditary Prostate Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, TP53, NBN, CHEK2
Specificity
20 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Inherited Cancer Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Bone Marrow Failure.

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

BRCA2, RPL35A, FANCC, RPS19, TINF2, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, MPL, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
VistaSeq Hereditary Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Vistaseq Hereditary Cancer Panel Without BRCA.

By Molecular Diagnostic Laboratory LabCorp in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A, SMAD4, BRIP1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
VisaSeq Breast and GYN Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
VistaSeq Breast Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C, BARD1, RAD51D, NF1, ABRAXAS1
Specificity
6 %
Genes
100 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, RB1, MEN1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, NF1, SMARCB1
Specificity
6 %
Genes
100 %
myRisk Hereditary Cancer.

By Myriad Genetic Laboratories, Inc. Myriad Genetic Laboratories, Inc. in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Chromosome Breakage 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.

BLM, ATM, NBN, NHEJ1, LIG4
Specificity
20 %
Genes
100 %
NBN Sequencing.

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

NBN
Specificity
100 %
Genes
100 %
Chromosome Breakage 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.

BLM, ATM, NBN, NHEJ1, LIG4
Specificity
20 %
Genes
100 %
NBN Deletion/duplication analysis.

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

NBN
Specificity
100 %
Genes
100 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, ADA, BLM, ATM, NBN, PRF1, WAS, NF1, MAGT1, DOCK8, SH2D1A, IKZF1, TNFRSF13B, FAS, FASLG, CASP10, STXBP2, ITK, PIK3CD , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, SDHAF2, RET, SDHC, FH, SDHB, ANKRD26, TMEM127 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, PTEN, RUNX1, TP53, ANKRD26, BLM, PTPN11, CBL, ATM, NBN, PALB2, CDH1, CHEK2, GATA2, PAX5 , (...)

View the complete list with 11 more genes
Specificity
4 %
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 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
NBN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NBN
Specificity
100 %
Genes
100 %
Hereditary Cancer Panel Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHB, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

BRCA1, BRCA2, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, MEN1, ATM, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, BARD1, RAD51D
Specificity
5 %
Genes
100 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Comprehensive Cancer Panel.

By GeneDx in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Breast/Ovarian Cancer Panel.

By GeneDx in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, FANCC, ATM, NBN, PALB2, CDH1, CHEK2, BRIP1, RAD51C, BARD1, RAD51D, XRCC2
Specificity
5 %
Genes
100 %
OncoGeneDx Custom Panel.

By GeneDx in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine26.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer Panel - Neuro17.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, NF1
Specificity
6 %
Genes
100 %
BrainTumorNext.

By Ambry Genetics in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, TSC2, TSC1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, CDKN2A, PRKAR1A, NF1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
BreastNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, CHEK2, RAD50, BRIP1, RAD51C, BARD1, RAD51D, NF1
Specificity
6 %
Genes
100 %
CancerNext-Expanded.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
OvaNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
ProstateNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, NBN, PALB2, CHEK2, RAD51D, HOXB13
Specificity
8 %
Genes
100 %
TumorNext-HRD+CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
TumorNext-Lynch+CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BRAF, KRAS, NRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
TumorNext-HRD+OvaNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
TumorNext-HRD.

By Ambry Genetics in United States.

BRCA1, BRCA2, ATM, MRE11, NBN, PALB2, CHEK2, BRIP1, RAD51C, BARD1, RAD51D
Specificity
10 %
Genes
100 %
TumorNext-Lynch+OvaNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, KRAS, NRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
NBS. Detection of the mutation c.657del5 by sequencing.

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

NBN
Specificity
100 %
Genes
100 %
NBS. Complete sequencing.

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

NBN
Specificity
100 %
Genes
100 %
NBN. Detection of the mutation c.657_661del5 by sequencing.

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

NBN
Specificity
100 %
Genes
100 %
NBN. Complete sequencing.

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

NBN
Specificity
100 %
Genes
100 %
NBN. Complete sequencing.

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

NBN
Specificity
100 %
Genes
100 %
NBN. Detection of the mutation c.657del5 by sequencing.

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

NBN
Specificity
100 %
Genes
100 %
Hereditary Breast, Ovarian, and Endometrial Cancer Panel.

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

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, MEN1, ATM, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

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

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Hereditary Prostate Cancer Panel.

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

BRCA1, BRCA2, TP53, NBN, CHEK2
Specificity
20 %
Genes
100 %
Hereditary Brain Tumor Panel.

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

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, SMARCB1
Specificity
6 %
Genes
100 %
Nijmegen Breakage Syndrome (sequence analysis of NBN gene).

By CGC Genetics in Portugal.

NBN
Specificity
100 %
Genes
100 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, MEN1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Hereditary Ovarian Cancer.

By Laboratory of Genetics HUSLAB in Finland.

BRCA1, BRCA2, TP53, MRE11, NBN, RAD50, BRIP1, RAD51C, BARD1, RAD51D, RAD51
Specificity
10 %
Genes
100 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, ATM, NBN, PALB2, CDH1, STK11, CDK4 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Hyper IgM Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UNG, ATM, MRE11, NBN, BTK, SH2D1A, AICDA, CD40, CD40LG, PIK3CD, NFKBIA
Specificity
10 %
Genes
100 %
Nijmegen Breakage Syndrome via NBN Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NBN
Specificity
100 %
Genes
100 %
Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, BARD1, RAD51D, NF1, RECQL
Specificity
6 %
Genes
100 %
Chromosomal Instability Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, BLM, ATM, MRE11, NBN, ERCC6, ERCC8, WRN
Specificity
13 %
Genes
100 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Prostate Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, NBN, PALB2, CHEK2, BRIP1, RAD51C, RAD51D, HOXB13
Specificity
7 %
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 %
Njimegen Breakage Syndrome.

By Institute of Human Genetics Cologne University in Germany.

NBN
Specificity
100 %
Genes
100 %
NBN.

By MGZ Medical Genetics Center in Germany.

NBN
Specificity
100 %
Genes
100 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Colorectal Cancer.

By MGZ Medical Genetics Center in Germany.

APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, NBN, STK11, MET, CHEK2, BMPR1A, SMAD4, PMS1, BUB1B
Specificity
7 %
Genes
100 %
Ovarian Cancer.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, TP53, FANCC, ATM, NBN, PALB2, CHEK2, BRIP1, RAD51C, RAD51D, FANCB, FANCA, FANCG, FANCF, FANCE , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Ovarian Cancer – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, TP53, NBN, PALB2, CHEK2, BRIP1, RAD51C, RAD51D
Specificity
8 %
Genes
100 %
Breast Cancer.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, SDHC, FH, SDHB, FANCC, BLM, ATM, NBN, PALB2, CDH1, STK11, SDHD , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
CentoBreast (hereditary breast cancer) panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, BARD1
Specificity
8 %
Genes
100 %
Aplastic anemia.

By Centogene AG - the Rare Disease Company in Germany.

NBN
Specificity
100 %
Genes
100 %
Breast ovarian cancer panel.

By Centogene AG - the Rare Disease Company in Germany.

MSH6, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, BARD1, RAD51
Specificity
8 %
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 %
Prostate cancer panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, MSH2, MSH6, MLH1, PTEN, TP53, NBN, CHEK2, HOXB13
Specificity
10 %
Genes
100 %
CentoCancer panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FH, BLM, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

PTEN, RECQL4, TP53, RB1, RET, SDHC, FH, SDHB, BLM, TSC2, TSC1, NBN, NF2, CDKN2A, SDHD, MET, CDC73, NF1, LZTR1, SPRED1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Colon Cancer Panel.

By CeGaT GmbH in Germany.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, NBN, STK11, FLCN, CHEK2, BMPR1A, SMAD4, POLD1, POLE, RINT1, AXIN1
Specificity
6 %
Genes
100 %
Breast and Ovarian Cancer - extended Diagnostic Panel.

By CeGaT GmbH in Germany.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, MEN1, FANCC, ATM, MRE11, NBN, PTCH1, PALB2, CDH1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Bone marrow failure syndromes with Leukemia Panel.

By CeGaT GmbH in Germany.

RUNX1, NBN, CEBPA, GATA1, CASP10
Specificity
20 %
Genes
100 %
Bone marrow failure syndromes Panel.

By CeGaT GmbH in Germany.

BRCA2, FANCC, TINF2, MRE11, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, RTEL1, WAS, FANCB, DKC1, LYST, TERC, TERT, CSF2RA, CTC1, WRAP53 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Breast and Ovarian Cancer.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, MSH2, MSH6, MLH1, MUTYH, TP53, CASP8, MEN1, FANCC, KRAS, ATM, MRE11, NBN, PALB2, STK11, CHEK2, BRIP1, RAD51C, BARD1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Nijmegen Breakage Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

NBN
Specificity
100 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Inherited Cancer Screen.

By Counsyl in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, SDHC, SDHB, MEN1, SDHA, ATM, MRE11, NBN , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
qCancer Risk.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, TSC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
qCancer Gine.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Invitae Breast Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, BARD1, NF1
Specificity
8 %
Genes
100 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI).

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, MEN1, SDHA, TSC2, TSC1, ATM, NBN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Invitae Sarcoma Panel.

By Invitae in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Invitae Breast Cancer Guidelines-Based Panel.

By Invitae in United States.

BRCA1, BRCA2, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, NF1
Specificity
10 %
Genes
100 %
Invitae Prostate Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, NBN, CHEK2, HOXB13
Specificity
9 %
Genes
100 %
Invitae Breast and Gyn Cancers Guidelines-Based Panel.

By Invitae in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, RAD51D, NF1
Specificity
6 %
Genes
100 %
Invitae Pediatric Hematologic Malignancies Panel.

By Invitae in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
100 %
Invitae Myelodysplastic Syndrome/Leukemia Panel.

By Invitae in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
100 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Invitae Breast and Gyn Cancers Panel.

By Invitae in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C, BARD1, RAD51D , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Invitae Nijmegen Breakage Syndrome Test.

By Invitae in United States.

NBN
Specificity
100 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Ataxia Telangiectasia variant 1[Nijmegen breakage syndrome]: NBS1 gene deletion analysis (c.657_661del5).

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

NBN
Specificity
100 %
Genes
100 %
Ataxia Telangiectasia variant 1[Nijmegen breakage syndrome]: NBS1 gene sequence analysis.

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

NBN
Specificity
100 %
Genes
100 %
ONCOLOGY, PANEL.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
COLON, BREAST AND OVARIAN CANCER.

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

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, KRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, BMPR1A , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PITX2, RAF1, SOX2, HESX1, BLM, CREBBP, DHCR7, KRAS, PTPN11, SOS1, SMC3, SMC1A, NIPBL, NBN, PROP1, BTK, GHRHR, SHOX, POU1F1, GH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Brain, CNS, and PNS Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
7 %
Genes
100 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, APC, MSH2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
7 %
Genes
100 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Nijmegen Breakage Syndrome (NBN).

By Integrated Genetics Westborough Integrated Genetics in United States.

NBN
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 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 %
Chromosomal Instability Syndromes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BLM, ATM, MRE11, NBN, ERCC6, ERCC8, WRN
Specificity
15 %
Genes
100 %
NBN.

By Fulgent Genetics Fulgent Genetics in United States.

NBN
Specificity
100 %
Genes
100 %
Focus Cancer Panel - 40 Genes.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, FANCC, ATM, MRE11, NBN, PTCH1, PALB2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Breast Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, BARD1
Specificity
8 %
Genes
100 %
Ovarian Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, MRE11, NBN, STK11, BRIP1, RAD51C, BARD1, RAD51D
Specificity
7 %
Genes
100 %
Prostate Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, NBN, CHEK2
Specificity
10 %
Genes
100 %
Hematologic Malignancy Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, ATM, NBN, GATA2, CEBPA, NF1, TERC, TERT
Specificity
7 %
Genes
100 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Breast Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C, BARD1, RAD51D, NF1, XRCC2
Specificity
6 %
Genes
100 %
Ovarian Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, MRE11, NBN, STK11, BRIP1, RAD51C, BARD1, RAD51D, SMARCA4
Specificity
6 %
Genes
100 %
Prostate Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, NBN, CHEK2, HOXB13
Specificity
10 %
Genes
100 %
Sarcoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, SDHC, SDHB, MEN1, ATM, NBN, PALB2, CDH1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
BREASTON-EXTENDED.

By PentaCoreLab in Hungary.

BRCA1, BRCA2, TP53, KRAS, ATM, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, BARD1, RAD51, ERBB2, DIRAS3
Specificity
7 %
Genes
100 %
Fanconi Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, FANCC, BLM, ATM, NBN, PALB2, BRIP1, RAD51C, FANCB, ATR, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ANKRD26, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, TINF2, RIT1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Hereditary Pediatric Cancer Panel.

By Blueprint Genetics in Finland.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Hereditary Breast and Gynecological Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, BLM, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Nijmegen breakage syndrome.

By Bioarray in Spain.

NBN
Specificity
100 %
Genes
100 %
Nijmegen Breakage Syndrome.

By Bioarray in Spain.

NBN
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Breast Cancer Panel.

By ApolloGen, Inc. in United States.

BRCA1, BRCA2, MSH2, MSH6, MLH1, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C
Specificity
7 %
Genes
100 %
iGene Cancer Panel.

By ApolloGen, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, ATM, NBN, PTCH1, PALB2, CDH1, STK11, CDKN2A , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hereditary Breast and Ovarian Cancer 26 Gene Panel.

By Veritas Genetics Veritas Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, MEN1, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer Comprehensive Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Hereditary Cancer.

By Color Genomics, Inc. Color Genomics, Inc. in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ELAC2, RET, MEN1, FANCC, HRAS, ATM, MRE11, NBN , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Nijmegen Breakage Syndrome , Sequencing NBN Gene.

By Reference Laboratory Genetics in Spain.

NBN
Specificity
100 %
Genes
100 %
Ataxia Telangiectasia (Nijmegen Breakage Syndrome) , Deletion NBN Gene.

By Reference Laboratory Genetics in Spain.

NBN
Specificity
100 %
Genes
100 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, RAD51D, NF1
Specificity
5 %
Genes
100 %
Chromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, BLM, ATM, MRE11, NBN, ERCC6, ERCC8, WRN
Specificity
13 %
Genes
100 %
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes.

By Reference Laboratory Genetics in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHAF2, SDHC, FH, SDHB, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

NBN, SBDS, PRF1, TERC, TERT, IFNG
Specificity
17 %
Genes
100 %
Familial Prostate Cancer , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, EPCAM, ELAC2, RNASEL, ZFHX3, AR, NBN, CDH1, CHEK2, MSR1
Specificity
10 %
Genes
100 %
genTrue.

By True Health Diagnostics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Phosphorus Breast Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, BARD1, RAD51D, NF1
Specificity
7 %
Genes
100 %
Phosphorus Leukemia including Fanconi Anemia Genes Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, FANCC, BLM, HRAS, TINF2, ATM, NBN, PALB2, BRIP1, GATA2, CEBPA, RAD51C, NF1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Phosphorus Leukemia Panel.

By Phosphorus Diagnostics LLC in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, BLM, HRAS, TINF2, ATM, NBN, GATA2, CEBPA, NF1, DKC1, TERC, TERT
Specificity
6 %
Genes
100 %
Phosphorus Prostate Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, NBN, CHEK2, RAD51D, HOXB13
Specificity
8 %
Genes
100 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
Phosphorus Common/High Risk Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 33 more genes
Specificity
2 %
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 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Brain, CNS, and PNS Cancer: Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
7 %
Genes
100 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MSH2, MSH6, MLH1, TP53, MEN1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
7 %
Genes
100 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Prostate cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, TP53, NBN, CHEK2
Specificity
20 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Nijmegen Breakage Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NBN
Specificity
100 %
Genes
100 %

Alternate names

Nijmegen Breakage Syndrome; Nbs Is also known as ataxia-telangiectasia variant v1;at-v1, microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies, seemanova syndrome ii, nonsyndromal microcephaly, autosomal recessive, with normal intelligence, immunodeficiency, microcephaly, and chromosomal instability;at v1; ataxia-telangiectasia, variant 1; berlin breakage syndrome; immunodeficiency-microcephaly-chromosomal instability syndrome; microcephaly-immunodeficiency-lymphoreticuloma syndrome; nbs; seemanova syndrome type 2.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SINGLETON-MERTEN SYNDROME 2; SGMRT2 KABUKI SYNDROME 2; KABUK2 BRUNNER SYNDROME; BRNRS PROLIDASE DEFICIENCY PYLE DISEASE; PYL CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U

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