Diarrhea 5, With Tufting Enteropathy, Congenital; Diar5

Description

Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. CTE presents in the first few months of life with chronic watery diarrhea and failure to thrive, and most affected individuals require parenteral nutrition for normal growth and development (summary by Sivagnanam et al., 2008).Semiquantitative assessment of the epithelial surface in CTE patients revealed that 80 to 90% contained tufts, compared to only 16% in patients with celiac disease and less than 10% in normal jejunum (Reifen et al., 1994).For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Diarrhea 5, With Tufting Enteropathy, Congenital; Diar5

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Failure to thrive
  • Motor delay
  • Abnormal facial shape
And another 27 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 Diarrhea 5, With Tufting Enteropathy, Congenital; Diar5 have a estimated birth prevalence of 0.5 per 100k worldwide.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Diarrhea 5, With Tufting Enteropathy, Congenital; Diar5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EPCAM Deletion Analysis.

By Baylor Miraca Genetics Laboratories in United States.

EPCAM
Specificity
100 %
Genes
100 %
HNPCC MSI & IHC Screening.

By Baylor Miraca Genetics Laboratories in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Hereditary Pancreatic Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDK4, CDKN2A, BMPR1A, SMAD4, RAD50
Specificity
6 %
Genes
100 %
High Risk Hereditary Colorectal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, STK11, BMPR1A, SMAD4
Specificity
9 %
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 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A, SMAD4 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hereditary nonpolyposis colorectal cancer (Lynch syndrome).

By Center for Human Genetics, Inc in United States.

EPCAM
Specificity
100 %
Genes
100 %
Lynch syndrome/HNPCC (MLH1, MSH2, MSH6, PMS2, TACSTD1).

By Center for Human Genetics, Inc in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Comprehensive breast and ovarian cancer panel testing (18 genes).

By Molecular Genetics Laboratory North York General Hospital in Canada.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, RAD51D
Specificity
6 %
Genes
100 %
Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) Mutation, Deletion/Duplication Analysis.

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

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
EPCAM deletion/duplication analysis.

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

EPCAM
Specificity
100 %
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 %
Inherited Colon Cancer.

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

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, POLD1, GREM1
Specificity
12 %
Genes
100 %
Inherited Ovarian Cancer.

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

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
15 %
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 High Risk Colorectal Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH
Specificity
15 %
Genes
100 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, GPC3, MITF
Specificity
6 %
Genes
100 %
VistaSeq Pancreatic Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

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

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, ATM, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4, POLD1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
VistaSeq GYN Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CHEK2
Specificity
10 %
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 %
COLARIS Plus.

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

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Hereditary Gastric Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, SDHB, CDH1, STK11, BMPR1A, SMAD4, CTNNA1, KIT, PDGFRA
Specificity
6 %
Genes
100 %
Lynch Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, POLD1, POLE
Specificity
15 %
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 Colorectal Cancer High Risk Panel.

By Genetic Services Laboratory University of Chicago in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, POLD1, POLE
Specificity
12 %
Genes
100 %
Comprehensive Hereditary Colorectal Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, ENG, POLD1, GREM1, POLE, AXIN2, BUB1B , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Comprehensive Hereditary Breast/Ovarian Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

By Institute for Human Genetics University Clinic Freiburg in Germany.

EPCAM
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 %
Hereditary Cancer Panel - High Penetrance 16.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, PALB2, CDH1, STK11, CHEK2
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.

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 %
Gastrointestinal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 16 Genes.

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

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, CDH1, STK11, SDHD, BMPR1A, SMAD4
Specificity
7 %
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 %
Oncology High/Moderate Risk Panel.

By GeneDx in United States.

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

View the complete list with 3 more genes
Specificity
5 %
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 %
Lynch/Colorectal High Risk Panel.

By GeneDx in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH
Specificity
15 %
Genes
100 %
Colorectal Cancer Panel.

By GeneDx in United States.

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

By GeneDx in United States.

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

By GeneDx in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CHEK2, POLD1
Specificity
9 %
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 %
Renal Cancer Panel.

By GeneDx in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1
Specificity
6 %
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 - Renal19.

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

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CDC73, MITF
Specificity
6 %
Genes
100 %
Hereditary Cancer Panel - Pancreatic14.

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

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

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

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

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

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

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

EPCAM, MSH2, MSH6, MLH1
Specificity
25 %
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 %
ColoNext.

By Ambry Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE
Specificity
6 %
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 %
EPCAM deletion/duplication.

By Ambry Genetics in United States.

EPCAM
Specificity
100 %
Genes
100 %
Lynch Syndrome Paired Testing.

By Ambry Genetics in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, BRAF, KRAS, NRAS
Specificity
13 %
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 %
PancNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDKN2A
Specificity
8 %
Genes
100 %
RenalNext.

By Ambry Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, BAP1
Specificity
6 %
Genes
100 %
TumorNext-Lynch+ColoNext.

By Ambry Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BRAF, KRAS, NRAS, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE
Specificity
5 %
Genes
100 %
TumorNext-Lynch.

By Ambry Genetics in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, BRAF, KRAS, NRAS
Specificity
13 %
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-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 %
GYNplus.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, PALB2, BRIP1, RAD51C, RAD51D
Specificity
8 %
Genes
100 %
HNPCC/Lynch Syndrome Panel.

By Ambry Genetics in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
MLH1, MSH2, MSH6 gene sequence and deletion/duplication and EPCAM deletion/duplication reflex to PMS2 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
MSH2 gene sequence and MSH2 and EPCAM deletion/duplication and MSH2 Inversion.

By Ambry Genetics in United States.

EPCAM, MSH2
Specificity
50 %
Genes
100 %
EPCAM. Deletion of the 3 region of the gene by MLPA.

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

EPCAM
Specificity
100 %
Genes
100 %
EPCAM. Complete sequencing.

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

EPCAM
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 %
Hereditary Colorectal and Gastrointestinal Cancer Panel.

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

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A, SMAD4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Hereditary High-Risk Colorectal Cancer Panel.

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

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, STK11, BMPR1A, SMAD4
Specificity
9 %
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 Pancreatic Cancer Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDK4, CDKN2A, BMPR1A, SMAD4, PRSS1
Specificity
6 %
Genes
100 %
Congenital Diarrhea Seq Analysis.

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

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital Diarrhea Del/Dup Panel.

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

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital Diarrhea Seq + Del/Dup Panel.

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

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Hereditary nonpolyposis colorectal cancer (HNPCC, deletion/duplication analysis on MLH1, MSH2 and EPCAM genes).

By CGC Genetics in Portugal.

EPCAM, MSH2, MLH1
Specificity
34 %
Genes
100 %
Diarrhea 5, with tufting enteropathy, congenital (sequence analysis of EPCAM gene).

By CGC Genetics in Portugal.

EPCAM
Specificity
100 %
Genes
100 %
Hereditary nonpolyposis colorectal cancer (HNPCC, NGS panel for 5 genes).

By CGC Genetics in Portugal.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Hereditary nonpolyposis colon cancer, type 8 (sequence analysis of EPCAM gene).

By CGC Genetics in Portugal.

EPCAM
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 colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, TGFBR2, POLD1, POLE, AXIN2, GALNT12, MLH3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, TGFBR2, POLD1, POLE, AXIN2, GALNT12, MLH3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
MLH1/MSH2/MSH6/PMS2/EPCAM Somatic Tumor MMR Sequencing and Deletion/Duplication Test.

By Impact Genetics Impact Genetics in Canada.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
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 %
Colorectal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CHEK2, CDC73 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Lynch Syndrome via EPCAM Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EPCAM
Specificity
100 %
Genes
100 %
Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Hereditary Endometrial Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CHEK2, POLD1
Specificity
9 %
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 - High Risk and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, ATM, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, RAD51D
Specificity
6 %
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 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Lynch Syndrome gene sequencing and deletion/dupliction analysis.

By Molecular Diagnostics Laboratory University Health Network in Canada.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
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 %
Hnpcc Deep Intronic.

By MGZ Medical Genetics Center in Germany.

EPCAM, MSH2, PMS2, MSH6, MLH1, PMS1, MLH3, MSH3
Specificity
13 %
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 %
CentoColon extended panel.

By Centogene AG - the Rare Disease Company in Germany.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, POLE, NTHL1
Specificity
6 %
Genes
100 %
Colorectal cancer, hereditary nonpolyposis type 8.

By Centogene AG - the Rare Disease Company in Germany.

EPCAM
Specificity
100 %
Genes
100 %
Pancreatic cancer Panel.

By CeGaT GmbH in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDKN2A, SPINK1, PRSS1, PALLD
Specificity
6 %
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 %
Renal cell carcinoma Panel.

By CeGaT GmbH in Germany.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, HNF1A, WT1, SDHAF2, HNF1B, SDHC, FH, SDHB, SDHA, TSC2, TSC1, PALB2, SDHD , (...)

View the complete list with 4 more genes
Specificity
5 %
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 %
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 %
Lynch syndrome/HNPCC (MLH1, MSH2, MSH6, PMS2, EPCAM).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
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 %
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 %
qCancer Colorrectal.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE
Specificity
6 %
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 Constitutional Mismatch Repair-Deficiency Panel.

By Invitae in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Invitae Gastric Cancer Panel.

By Invitae in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, SDHC, SDHB, SDHA, CDH1, STK11, SDHD, BMPR1A, SMAD4, NF1, KIT, PDGFRA
Specificity
6 %
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 Renal/Urinary Tract Cancers Panel.

By Invitae in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, FLCN, MET, GPC3, CDC73, SMARCA4 , (...)

View the complete list with 4 more genes
Specificity
5 %
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 Nervous System/Brain Cancer Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, MEN1, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 5 more genes
Specificity
4 %
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 Nervous System/Brain Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, MEN1, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 4 more genes
Specificity
5 %
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 Lynch Syndrome Panel.

By Invitae in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Invitae Pancreatic Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4, NF1
Specificity
5 %
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 Colorectal Cancer Guidelines-Based Panel.

By Invitae in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, STK11, BMPR1A, SMAD4
Specificity
9 %
Genes
100 %
Invitae Colorectal Cancer Panel.

By Invitae in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2
Specificity
6 %
Genes
100 %
Colorectal cancer, hereditary nonpolyposis: EPCAM gene sequence analysis.

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

EPCAM
Specificity
100 %
Genes
100 %
COLON CANCER.

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

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, STK11, FLCN, BMPR1A, SMAD4, ENG, PMS1, MSH3
Specificity
7 %
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 %
Lynch Syndrome, EPCAM-Related: EPCAM Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

EPCAM
Specificity
100 %
Genes
100 %
Lynch Syndrome: MLH, MSH2, MSH6, and EPCAM Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

EPCAM, MSH2, MSH6, MLH1
Specificity
25 %
Genes
100 %
Lynch Syndrome: MLH1, MSH2, MSH6, PMS2, and EPCAM Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

EPCAM, MSH2, MSH6, MLH1
Specificity
25 %
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 %
Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, ATM, CDH1, STK11, CHEK2, BMPR1A, SMAD4
Specificity
7 %
Genes
100 %
Colon Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CDKN2A, FLCN, CHEK2, BMPR1A, SMAD4, PMS1, AXIN2, BUB1B, GALNT12 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Pancreatic Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1
Specificity
6 %
Genes
100 %
Renal/Kidney NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CDC73, MITF , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
EPCAM.

By Fulgent Genetics Fulgent Genetics in United States.

EPCAM
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 %
Colorectal Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, STK11, CHEK2, BMPR1A, SMAD4, POLD1, POLE, AXIN2
Specificity
7 %
Genes
100 %
Endometrial Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, POLD1
Specificity
10 %
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 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, MEN1, HRAS, TSC2, TSC1, ALK, ATM, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 5 more genes
Specificity
4 %
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 %
Pancreatic Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, FANCC, TSC2, TSC1, ATM, PALB2, STK11, CDK4, CDKN2A, BMPR1A , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, CDH1, STK11, BMPR1A, SMAD4, NF1, KIT, PDGFRA
Specificity
8 %
Genes
100 %
Endometrial Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, POLD1
Specificity
10 %
Genes
100 %
Colorectal Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2, GALNT12, MLH3
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 %
Renal / Urinary Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 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 %
GIvantage Hereditary Colon Cancer Panel.

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

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, BMPR1A, SMAD4
Specificity
8 %
Genes
100 %
Lynch Syndrome Panel.

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

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
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 %
Hereditary Colorectal Cancer Panel.

By Blueprint Genetics in Finland.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, STK11, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2, NTHL1
Specificity
6 %
Genes
100 %
Hereditary Pancreatic Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, FANCC, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4 , (...)

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

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Congenital Diarrhea Panel.

By Blueprint Genetics in Finland.

EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3 , (...)

View the complete list with 7 more genes
Specificity
4 %
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 Gastrointestinal Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
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 %
Hereditary Renal Cancer Panel.

By Blueprint Genetics in Finland.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)

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

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
COLOTRUE™.

By Pathway Genomics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, MDM2
Specificity
7 %
Genes
100 %
Hereditary nonpolyposis colorectal cancer type VIII.

By Bioarray in Spain.

EPCAM
Specificity
100 %
Genes
100 %
Intestinal epithelial dysplasia.

By Bioarray in Spain.

EPCAM
Specificity
100 %
Genes
100 %
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch Syndrome.

By GeneKor MSA in Greece.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Hereditary Colon and Endometrial Cancer-ColoNGS.

By GeneKor MSA in Greece.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH
Specificity
15 %
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 %
Lynch Syndrome.

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

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
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 %
EPCAM Mutation & Del/Dup Analysis.

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

EPCAM
Specificity
100 %
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 %
INTESTINAL EPITHELIAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

EPCAM
Specificity
100 %
Genes
100 %
Congenital Intractable Familial Diarrhea with Epithelial Abnormalities, Sequencing EPCAM Gene.

By Reference Laboratory Genetics in Spain.

EPCAM
Specificity
100 %
Genes
100 %
Hereditary Non-Polyposis Colon Cancer, Deletion (MLPA) EPCAM Gene.

By Reference Laboratory Genetics in Spain.

EPCAM
Specificity
100 %
Genes
100 %
Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, STK11, FLCN, BMPR1A, SMAD4, ENG, MSH3
Specificity
8 %
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 %
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, HNF1A, WT1, HNF1B, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Uterine Cancer , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN
Specificity
17 %
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 %
Hereditary Gastric Cancer , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

EPCAM, MSH2, PMS2, MSH6, MLH1, CDH1, BMPR1A, SMAD4
Specificity
13 %
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 Colorectal Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2
Specificity
6 %
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 Ovarian/Uterine Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, PALB2, BRIP1, RAD51C, RAD51D, SMARCA4, DICER1
Specificity
7 %
Genes
100 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, HRAS, TSC2, TSC1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, CFTR, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4 , (...)

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

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4, NF1
Specificity
5 %
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 Renal/Urinary Tract Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
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 %
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 %
Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EPCAM
Specificity
100 %
Genes
100 %
Lynch Syndrome: MLH1, MSH2, MSH6, PMS2, and EPCAM Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EPCAM, MSH2, PMS2, MSH6, MLH1
Specificity
20 %
Genes
100 %
Pancreatic Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, TP53, ATM, PALB2, STK11, CDKN2A, PRSS1
Specificity
8 %
Genes
100 %
Lynch Syndrome: MLH1, MSH2, MSH6, and EPCAM Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EPCAM, MSH2, MSH6, MLH1
Specificity
25 %
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 %

Alternate names

Diarrhea 5, With Tufting Enteropathy, Congenital; Diar5 Is also known as enteropathy, congenital tufting;cte, intestinal epithelial cell dysplasia;ied; intestinal epithelial dysplasia.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME PARTIAL CHROMOSOME Y DELETION LEUKOTRIENE C4 SYNTHASE DEFICIENCY PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH