Ataxia-telangiectasia; At

Description

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Ataxia-telangiectasia; At

  • Intellectual disability
  • Seizures
  • Short stature
  • Pica
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Failure to thrive
And another 113 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 Ataxia-telangiectasia; At have a estimated prevalence of 0.49 per 100k worldwide.


Mendelian

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Ataxia-telangiectasia; At Recommended genes panels

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

By Baylor Miraca Genetics Laboratories in United States.

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

By Baylor Miraca Genetics Laboratories in United States.

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

By Baylor Miraca Genetics Laboratories in United States.

RAD50, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Hereditary Leukemia/Lymphoma Panel.

By Baylor Miraca Genetics Laboratories in United States.

PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, PALB2, ATM, CBL, PTPN11, TP53, RUNX1, BRCA2
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

PMS1, ENG, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...)

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.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Ataxia-Telangiectasia (ATM) Evaluation.

By Athena Diagnostics Inc in United States.

ATM
Specificity
100 %
Genes
100 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc in United States.

GRM1, SIL1, TDP1, ANO10, SYT14, SYNE1, SETX, TTPA, SACS, MRE11, ATM, APTX, FLVCR1, COQ8A, MTPAP, AFG3L2, POLG
Specificity
6 %
Genes
100 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc in United States.

GRM1, SIL1, TDP1, ANO10, SYT14, SYNE1, SETX, TTPA, SACS, MRE11, ATM, APTX, FXN, FLVCR1, COQ8A, MTPAP, AFG3L2, POLG
Specificity
6 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Comprehensive breast and ovarian cancer panel testing (18 genes).

By Molecular Genetics Laboratory North York General Hospital in Canada.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Comprehensive breast cancer panel testing (10 genes).

By Molecular Genetics Laboratory North York General Hospital in Canada.

BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
100 %
Ataxia Telangiectasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

ATM
Specificity
100 %
Genes
100 %
ATM full gene sequencing.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center in United States.

ATM
Specificity
100 %
Genes
100 %
Inherited Cancer Panel.

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

CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Dystonia.

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

SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, ADAR, C19orf12, ERCC6, TAF1, AP1S2, VPS13A , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Inherited Breast Cancer.

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

CHEK2, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
100 %
Movement Disorders Panel.

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

VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
VistaSeq Hereditary Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1 , (...)

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.

ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1 , (...)

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.

ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

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

By Molecular Diagnostic Laboratory LabCorp in United States.

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

By Molecular Diagnostic Laboratory LabCorp in United States.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
100 %
VistaSeq Pancreatic Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
VistaSeq Colorectal Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

AXIN2, POLE, POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
myRisk Hereditary Cancer.

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

POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH , (...)

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.

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

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

ATM
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.

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

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

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

By Genetic Services Laboratory University of Chicago in United States.

CARD11, CTLA4, CD27, PIK3CD, ITK, STXBP2, CASP10, FASLG, FAS, TNFRSF13B, IKZF1, SH2D1A, DOCK8, MAGT1, NF1, WAS, PRF1, NBN, ATM, BLM , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel.

By Genetic Services Laboratory University of Chicago in United States.

NF1, CHEK2, ATM, CBL, PTPN11, BLM, TP53, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX , (...)

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.

DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, CHEK2, CDH1, PALB2, NBN, ATM, CBL, PTPN11 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAD51, UBE2T, SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, ETV6, IKZF1, USB1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hereditary Breast/Ovarian Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Ataxia-Telangiectasia.

By Molecular Genetics Rabin Medical Center in Israel.

ATM
Specificity
100 %
Genes
100 %
ATM.

By Institute for Human Genetics University Clinic Freiburg in Germany.

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

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

POLE, GREM1, POLD1, CTNNA1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, SDHB, TP53 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer Panel - High Penetrance 16.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes.

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

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

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

CDKN1B, BAP1, SMARCB1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2 , (...)

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.

IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, VAV1, PLCG2, PRKCD, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19, PIK3R1, NFKB2, NFKBIA, LRBA, PIK3CD , (...)

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

By GeneDx in United States.

AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH , (...)

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

By GeneDx in United States.

CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
13 %
Genes
100 %
Oncology High/Moderate Risk Panel.

By GeneDx in United States.

RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Breast/Ovarian Cancer Panel.

By GeneDx in United States.

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

By GeneDx in United States.

AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
100 %
Pancreatic Cancer Panel.

By GeneDx in United States.

XRCC2, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
OncoGeneDx Custom Panel.

By GeneDx in United States.

AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer Panel - Breast9.

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

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
100 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine26.

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

ABRAXAS1, XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer Panel - Pancreatic14.

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

CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
Hereditary Cancer Panel - Colorectal20.

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

GALNT12, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
5 %
Genes
100 %
Hereditary Cancer Panel - Breast/Ovarian17.

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

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
ATM gene sequence and deletion/duplication.

By Ambry Genetics in United States.

ATM
Specificity
100 %
Genes
100 %
BRCAplus.

By Ambry Genetics in United States.

CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
13 %
Genes
100 %
BreastNext.

By Ambry Genetics in United States.

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

By Ambry Genetics in United States.

HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1 , (...)

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

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

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

By Ambry Genetics in United States.

NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C , (...)

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

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

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

By Ambry Genetics in United States.

HOXB13, RAD51D, CHEK2, PALB2, NBN, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
PancNext.

By Ambry Genetics in United States.

CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
TumorNext-HRD+CancerNext.

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

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

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

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

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

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

By Ambry Genetics in United States.

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

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, TP53, PTEN, MUTYH , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
ATM. Complete sequencing.

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

ATM
Specificity
100 %
Genes
100 %
ATM. NextGeneDx.Complete sequencing by NGS.

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

ATM
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.

WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Hereditary Colorectal and Gastrointestinal Cancer Panel.

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

POLE, POLD1, KIT, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

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

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

DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2 , (...)

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

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

PRSS1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Hereditary Brain Tumor Panel.

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

SMARCB1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
6 %
Genes
100 %
Severe combined immunodeficiency Seq + Del/Dup Panel.

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

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
100 %
Severe combined immunodeficency Seq Analysis.

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

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
100 %
Severe combined immunodeficiency Del/dup Panel.

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

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
100 %
Ataxia-Telangiectasia (deletion/duplication analysis of ATM gene).

By CGC Genetics in Portugal.

ATM
Specificity
100 %
Genes
100 %
Ataxia-Telangiectasia (sequence analysis of ATM gene).

By CGC Genetics in Portugal.

ATM
Specificity
100 %
Genes
100 %
Breast cancer (NGS panel for 10 genes).

By CGC Genetics in Portugal.

RAD51D, RAD51C, BRIP1, CHEK2, CDH1, PALB2, ATM, TP53, BRCA2, BRCA1
Specificity
10 %
Genes
100 %
Breast cancer (NGS panel for 18 genes).

By CGC Genetics in Portugal.

ERCC4, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

PLEKHG4, TMEM240, ZNF592, ELOVL5, PIK3R5, CCDC88C, VLDLR, DNMT1, PNKP, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SIL1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4 , (...)

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

By CGC Genetics in Portugal.

CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

CACNA1B, SLC30A10, GNAL, BCAP31, KCTD17, HPCA, ANO3, PRKRA, SLC6A3, DRD2, MR1, DDC, FTL, TUBB4A, TAF1, ACTB, VPS13A, PRRT2, KCNMA1, ATP1A3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
ATAXIA TELANGIECTASIA.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

ATM
Specificity
100 %
Genes
100 %
Ataxia telangiectasia Syndrome via ATM Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATM
Specificity
100 %
Genes
100 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Colorectal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
100 %
Hyper IgM Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NFKBIA, PIK3CD, CD40LG, CD40, AICDA, SH2D1A, BTK, NBN, MRE11, ATM, UNG
Specificity
10 %
Genes
100 %
Pancreatic Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PALLD, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States.

WRN, ERCC8, ERCC6, NBN, MRE11, ATM, BLM, RECQL4
Specificity
13 %
Genes
100 %
Breast Cancer - High / Moderate Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
100 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2 , (...)

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

By PreventionGenetics PreventionGenetics in United States.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DICER1, XRCC2, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH , (...)

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.

HOXB13, RAD51D, RAD51C, BRIP1, CHEK2, PALB2, NBN, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
Breast Cancer – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
100 %
Ataxia-Telangiectasia.

By MGZ Medical Genetics Center in Germany.

ATM
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...)

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

By MGZ Medical Genetics Center in Germany.

KCNA4, SLC52A3, SLC6A19, SLC52A2, SLC2A10, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, SETX, CACNA1A, SACS, ATM, SLC2A1, TACO1, ASL, APTX, ASS1, SLC25A15 , (...)

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

By MGZ Medical Genetics Center in Germany.

CEP57, BUB1B, DICER1, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, RAD51D, RAD51C, BRIP1, CHEK2, PALB2, NBN, ATM, FANCC , (...)

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

By MGZ Medical Genetics Center in Germany.

CEP57, BUB1B, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, NF1, RAD51D, RAD51C, BRIP1, CHEK2, SDHD, STK11, CDH1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Thyroid Cancer.

By MGZ Medical Genetics Center in Germany.

DICER1, CHEK2, FLCN, SDHD, STK11, ATM, MEN1, SDHB, SDHC, RET, PTEN, MUTYH, APC
Specificity
8 %
Genes
100 %
CentoBreast (hereditary breast cancer) panel.

By Centogene AG - the Rare Disease Company in Germany.

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

By Centogene AG - the Rare Disease Company in Germany.

MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Ataxia-telangiectasia.

By Centogene AG - the Rare Disease Company in Germany.

ATM
Specificity
100 %
Genes
100 %
Ataxia-telangiectasia.

By Centogene AG - the Rare Disease Company in Germany.

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

By Centogene AG - the Rare Disease Company in Germany.

RAD51, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MSH6
Specificity
8 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoCancer panel.

By Centogene AG - the Rare Disease Company in Germany.

NTHL1, POLE, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, BLM, FH , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

ABI1, DLEU1, CRLF2, CDKN2C, CKS1B, MECOM, MYC, BCL6, PBX1, TCF3, RARA, CBFB, PML, BCL2, PDGFRB, RUNX1T1, BCR, ETV6, PDGFRA, ABL1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
FISH, CLL panel.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette in United States.

ATM, TP53
Specificity
50 %
Genes
100 %
Ataxia-Telangiectasia.

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

ATM
Specificity
100 %
Genes
100 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

DDB2, POLH, XPC, RHBDF2, GTF2H5, CYLD, XPA, ERCC5, PDGFRB, FERMT1, ERCC8, AKT1, AXIN2, PIK3CA, ERCC4, NOP10, NHP2, WRAP53, CTC1, ERCC6 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Pancreatic cancer Panel.

By CeGaT GmbH in Germany.

PALLD, PRSS1, SPINK1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Breast and Ovarian Cancer - extended Diagnostic Panel.

By CeGaT GmbH in Germany.

UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Hereditary Degenerative Syndromes Panel.

By CeGaT GmbH in Germany.

DRD1, NUP62, SLC30A10, HEPACAM, SLC6A3, FBXO7, CSF1R, FTL, JPH3, C19orf12, SLC16A2, TAF1, FUCA1, VPS13A, WDR45, ATP13A2, ARFGEF2, DCTN1, ATN1, TBP , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Primary Torsion Dystonia Panel.

By CeGaT GmbH in Germany.

CIZ1, GNAL, HPCA, ANO3, TUBB4A, COL6A3, THAP1, TOR1A, ATM
Specificity
12 %
Genes
100 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH in Germany.

ARHGEF2, FRRS1L, RNF216, ADCY5, PRNP, PDE10A, FTL, JPH3, NKX2-1, GNAO1, KCNA1, TBP, ATXN7, ATXN3, ATXN2, C9orf72, ATM, ATXN1, GM2A, OPA3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

MED20, CACNA1B, CIZ1, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, KCTD17, HPCA, ANO3, COX20, PRKRA, CSF1R, FTL, TUBB4A, KIF1C, TAF1, VPS13A, PRRT2 , (...)

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

By CeGaT GmbH in Germany.

RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
100 %
Single gene testing ATM.

By CeGaT GmbH in Germany.

ATM
Specificity
100 %
Genes
100 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

SP110, RPSA, FCGR3A, ZBTB24, MCM4, SPINK5, RNF168, DNMT3B, TYK2, SMARCAL1, PDGFRA, NOD2, NHP2, CFH, FGF10, ADAR, DOCK8, TERT, TERC, DKC1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

CWF19L1, SNX14, PMPCA, RUBCN, SLC9A1, STUB1, RNF216, PIK3R5, GRID2, ATCAY, ATP2B3, ATP8A2, UBA5, CA8, DNAJC3, MARS2, CP, KIF1C, PEX10, PNKP , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Ataxia-Telangiectasia, ATM.

By GGA - Galil Genetic Analysis in Israel.

ATM
Specificity
100 %
Genes
100 %
Breast and Ovarian Cancer.

By Asper Biogene Asper Biogene LLC in Estonia.

CHD1, RAD51, XRCC2, FANCD2, FANCE, FANCF, FANCG, FANCA, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, PALB2, NBN, MRE11, ATM, KRAS, FANCC , (...)

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

By Asper Biogene Asper Biogene LLC in Estonia.

DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC in Estonia.

NOP56, CWF19L1, TMEM240, SNX14, RUBCN, SLC9A1, STUB1, RNF216, ELOVL5, LAMA1, SLC52A2, ATCAY, ATP8A2, CCDC88C, PTF1A, TUBB4A, CLCN2, DNMT1, CASK, OPHN1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

CACNA1B, SLC30A10, ADCY5, GNAL, KCTD17, HPCA, ANO3, SLC39A14, TBCE, SLC25A1, PRKRA, SLC6A3, DRD2, TUBB4A, TAF1, ACTB, GNAO1, RELN, PRRT2, KCNMA1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...)

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

By Counsyl in United States.

POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, SDHA , (...)

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

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

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

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53 , (...)

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

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1 , (...)

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

By Quantitative Genomic Medicine Laboratories, SL in Spain.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
100 %
qCancer Gine.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

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

By Invitae in United States.

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

By Invitae in United States.

DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11 , (...)

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

By Invitae in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...)

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

By Invitae in United States.

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

By Invitae in United States.

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

By Invitae in United States.

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

By Invitae in United States.

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

By Invitae in United States.

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

By Invitae in United States.

NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
5 %
Genes
100 %
Invitae Breast and Gyn Cancers Panel.

By Invitae in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Invitae Ataxia-Telangiectasia Test.

By Invitae in United States.

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

By Invitae in United States.

IRF7, RORC, DCLRE1B, DOCK2, MAP3K14, NFAT5, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, FPR1, SP110, TNFSF12, IKBKB, LCK, CTPS1, ZBTB24, ADAM17, BCL10 , (...)

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

By Invitae in United States.

DCLRE1B, SP110, ZBTB24, SPINK5, DNMT3B, PGM3, ACD, TTC7A, SMARCAL1, EPG5, WIPF1, NFKBIA, FOXN1, ORAI1, STAT5B, POLE, STIM1, NOP10, NHP2, CTC1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Ataxia Telangiectasia type 2: ATM gene sequence analysis.

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

ATM
Specificity
100 %
Genes
100 %
Ataxia Telangiectasia type 2: ATM gene deletions-duplications analysis (MLPA).

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

ATM
Specificity
100 %
Genes
100 %
ONCOLOGY, PANEL.

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

POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...)

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.

MLH3, AXIN2, XRCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, KRAS , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Ataxia.

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

IFRD1, ZNF592, PIK3R5, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, CACNA1A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)

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.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
7 %
Genes
100 %
High Risk Colorectal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC
Specificity
7 %
Genes
100 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BAP1, PRSS1, SMAD4, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
Gastrointestinal and Colorectal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SERAC1, PDGFRB, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, VPS37A, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
High Risk Colorectal Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC
Specificity
7 %
Genes
100 %
Ataxia-Telangiectasia (ATM).

By Integrated Genetics Westborough Integrated Genetics in United States.

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

By Integrated Genetics Westborough Integrated Genetics in United States.

XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACVRL1, RASA1, ENG, SMAD4, ATM
Specificity
20 %
Genes
100 %
Chromosomal Instability Syndromes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, 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.

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

By Fulgent Genetics Fulgent Genetics in United States.

RAD51D, BARD1, RAD51C, BRIP1, STK11, NBN, MRE11, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6 , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

NF1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

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

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

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB , (...)

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

By PentaCoreLab in Hungary.

DIRAS3, ERBB2, RAD51, BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, KRAS, TP53, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
Onco microarray for CLL.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

BCL3, FGF2, MYB, MYBL1, BCL10, BCL11A, MYC, BCL6, BCL2, CCND1, ITK, AKT1, IGH, ATM, ALK, TP53
Specificity
7 %
Genes
100 %
Fanconi Anemia Panel.

By Blueprint Genetics in Finland.

CXCR4, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, ATR, FANCB, RAD51C, BRIP1, PALB2, NBN, ATM, BLM , (...)

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

By Blueprint Genetics in Finland.

BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

DDX41, SAMD9L, ETV6, IKZF1, SRP72, FANCA, TERT, TERC, DKC1, NF1, CEBPA, SBDS, PAX5, GATA2, CDKN2A, NBN, ATM, CBL, MAP2K2, RIT1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
100 %
Hereditary Pancreatic Cancer Panel.

By Blueprint Genetics in Finland.

BUB1B, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...)

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

By Blueprint Genetics in Finland.

ERCC6L2, SMARCD2, RPS29, DDX41, SAMD9L, SAMD9, DNAJC21, PGM3, ACD, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK , (...)

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

By Blueprint Genetics in Finland.

NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1 , (...)

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

By Blueprint Genetics in Finland.

DICER1, XRCC2, FANCM, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, BLM, TP53, PTEN , (...)

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

By Blueprint Genetics in Finland.

RPS29, TMPRSS6, DHFR, TF, REN, DNAJC21, LPIN2, C15orf41, GSS, TPI1, RHAG, EPB42, ANK1, SPTA1, SPTB, RPL15, SLC4A1, RPS7, ERCC4, XRCC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer High Risk Panel.

By Blueprint Genetics in Finland.

POLE, POLD1, BAP1, RAD51D, RAD51C, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Focus::HERSite® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
7 %
Genes
100 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Focus::CLL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Ataxia-telangiectasia.

By Bioarray in Spain.

ATM
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Hematopoietic Disorders Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TSLP, FGFR4, TET1, BIRC3, PDGFRB, NOTCH2, IL7R, CSF3R, ETV6, FBXW7, IDH1, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Breast Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Genitourinary Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Gynecologic Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Head & Neck Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Thoracic Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Breast Cancer Panel.

By ApolloGen, Inc. in United States.

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

By ApolloGen, Inc. in United States.

NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
Guardant360.

By Guardant Health in United States.

MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Hereditary Breast and Ovarian Cancer 26 Gene Panel.

By Veritas Genetics Veritas Genetics in United States.

ABRAXAS1, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

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.

TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

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

IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

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

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

POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
ATAXIA-TELANGIECTASIA or LOUIS-BAR SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

ATM
Specificity
100 %
Genes
100 %
Ataxia Telangiectasia, Sequencing ATM Gene.

By Reference Laboratory Genetics in Spain.

ATM
Specificity
100 %
Genes
100 %
Ataxia Telangiectasia , Deletions-Duplications (MLPA) ATM Gene.

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...)

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.

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

By Reference Laboratory Genetics in Spain.

WRN, ERCC8, ERCC6, NBN, MRE11, ATM, BLM, RECQL4
Specificity
13 %
Genes
100 %
Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes.

By Reference Laboratory Genetics in Spain.

ATR, MRE11, ATM
Specificity
34 %
Genes
100 %
genTrue.

By True Health Diagnostics in United States.

POLE, POLD1, RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
Phosphorus Breast Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

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

By Phosphorus Diagnostics LLC in United States.

ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, TERT, TERC, DKC1, FANCB, NF1, RAD51C, CEBPA, GATA2, BRIP1 , (...)

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

By Phosphorus Diagnostics LLC in United States.

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

By Phosphorus Diagnostics LLC in United States.

CTRC, PRSS1, SPINK1, CASR, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, CFTR, MEN1, TP53, MLH1, MSH6, PMS2, MSH2 , (...)

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

By Phosphorus Diagnostics LLC in United States.

NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
5 %
Genes
100 %
Phosphorus Prostate Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

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

By Phosphorus Diagnostics LLC in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...)

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.

POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM , (...)

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

By Phosphorus Diagnostics LLC in United States.

DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Metformin response.

By Xcode Life Xcode Life in India.

ATM
Specificity
100 %
Genes
100 %
Metformin response.

By Xcode Life Xcode Life in India.

ATM
Specificity
100 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1 , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

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

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

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.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...)

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.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

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.

RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WEE1, ACVR1B, PTGFR, ZBED4, ZNF226, TRAF5, PPM1L, MAP2K4, PCGF2, PBRM1, FBXO32, EXOC2, NCOR1, MUC16, ESR1, KMT2C, ITCH, MYC, CBFB, ERBB2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MIER3, TCERG1, ATP6V0D2, ACVR1B, PTPN12, GALNT17, MAP2K4, MAP7, FZD3, MYO1B, CDC27, TCF7L2, BAX, DCC, ERBB2, MSH3, GPC6, PIK3R1, AKT1, FBXW7 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Gastrointestinal and Colorectal Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
100 %
High Risk Colorectal Cancer: Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC
Specificity
7 %
Genes
100 %
High Risk Colorectal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC
Specificity
7 %
Genes
100 %
Pancreatic Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PRSS1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
Pancreatic Cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PRSS1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
8 %
Genes
100 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)

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.

BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %

Alternate names

Ataxia-telangiectasia; At Is also known as at1, louis-bar syndrome;louis-bar syndrome.



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