POLD1 gene related symptoms and diseases

All the information presented here about the POLD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to POLD1 gene

Symptoms // Phenotype % Cases
Hearing impairment Uncommon - Between 30% and 50% cases
Scleroderma Uncommon - Between 30% and 50% cases
Telangiectasia Uncommon - Between 30% and 50% cases
Long eyelashes Uncommon - Between 30% and 50% cases
Insulin resistance Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with POLD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Dermal atrophy
  • Short metatarsal
  • Lipodystrophy
  • High pitched voice
  • Short clavicles
  • Hypertriglyceridemia
  • Osteolytic defects of the phalanges of the hand
  • Lack of skin elasticity

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POLD1 gene

Here you will find a list of rare diseases related to the POLD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MANDIBULAR HYPOPLASIA-DEAFNESS-PROGEROID SYNDROME

Alternate names

MANDIBULAR HYPOPLASIA-DEAFNESS-PROGEROID SYNDROME Is also known as mandibular hypoplasia-hearing loss-progeroid syndrome, mdp syndrome

Description

Mandibular hypoplasia-deafness-progeroid syndrome is a rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.

Most common symptoms of MANDIBULAR HYPOPLASIA-DEAFNESS-PROGEROID SYNDROME

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Sensorineural hearing impairment


More info about MANDIBULAR HYPOPLASIA-DEAFNESS-PROGEROID SYNDROME

SOURCES: OMIM ORPHANET

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10

Alternate names

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10 Is also known as colorectal cancer, susceptibility to, on chromosome 19q

Most common symptoms of COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10

  • Neoplasm
  • Carcinoma
  • Breast carcinoma
  • Brain neoplasm
  • Endometrial carcinoma


More info about COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10

SOURCES: OMIM

POLYMERASE PROOFREADING-RELATED ADENOMATOUS POLYPOSIS

Alternate names

POLYMERASE PROOFREADING-RELATED ADENOMATOUS POLYPOSIS Is also known as ppap


More info about POLYMERASE PROOFREADING-RELATED ADENOMATOUS POLYPOSIS

SOURCES: ORPHANET


Potential gene panels for POLD1 gene

Inherited Colon Cancer Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Colon Cancer that also includes the following genes: EPCAM GREM1 APC MLH1 MSH2 MSH6 MUTYH PMS2 POLD1

More info about this panel
United States.

VistaSeq Colorectal Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A APC

More info about this panel
Canada.

myRisk Hereditary Cancer Panel

United States.

By Myriad Genetic Laboratories, Inc. Myriad Genetic Laboratories, Inc. myRisk Hereditary Cancer that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A GREM1

More info about this panel
United States.

Partial Lipodystrophy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1

More info about this panel
United States.

Comprehensive Lipodystrophy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6

More info about this panel
United States.

Lynch Syndrome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Lynch Syndrome Panel that also includes the following genes: EPCAM MLH1 MSH2 MSH6 PMS2 POLD1 POLE

More info about this panel
United States.

Comprehensive Lipodystrophy Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6

More info about this panel
United States.

Partial Lipodystrophy Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1

More info about this panel
United States.

Comprehensive Hereditary Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SRP72

More info about this panel
United States.

Hereditary Colorectal Cancer High Risk Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Colorectal Cancer High Risk Panel that also includes the following genes: EPCAM APC MLH1 MSH2 MSH6 MUTYH PMS2 POLD1 POLE

More info about this panel
United States.

Colorectal Polyposis Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Colorectal Polyposis Panel that also includes the following genes: BMPR1A STK11 BUB1B GREM1 ENG APC SMAD4 MUTYH AXIN2 POLD1

More info about this panel
United States.

Comprehensive Hereditary Colorectal Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 BUB1B EPCAM TP53 CDH1 GALNT12 GREM1 ENG APC

More info about this panel
United States.

Hereditary Cancer Panel Comprehensive Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hereditary Cancer Panel Comprehensive that also includes the following genes: SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A

More info about this panel
Argentina.

Colorectal Cancer Panel Panel

United States.

By GeneDx Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel
United States.

Endometrial Cancer Panel Panel

United States.

By GeneDx Endometrial Cancer Panel that also includes the following genes: BRCA1 BRCA2 EPCAM TP53 MLH1 MSH2 MSH6 MUTYH PMS2 POLD1

More info about this panel
United States.

Hereditary Cancer Panel - Colorectal23 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Colorectal23 that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GALNT12 GREM1 APC SMAD4 MLH1

More info about this panel
United States.

Hereditary Cancer Panel- Comprehensive63 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11

More info about this panel
United States.

CancerNext-Expanded Panel

United States.

By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel
United States.

CancerNext Panel

United States.

By Ambry Genetics CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4

More info about this panel
United States.

ColoNext Panel

United States.

By Ambry Genetics ColoNext that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel
United States.

CustomNext: Cancer Panel

United States.

By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel
United States.

TumorNext-Lynch+ColoNext Panel

United States.

By Ambry Genetics TumorNext-Lynch+ColoNext that also includes the following genes: BMPR1A BRAF STK11 EPCAM TP53 CDH1 GREM1 APC KRAS SMAD4

More info about this panel
United States.

TumorNext-HRD+CancerNext Panel

United States.

By Ambry Genetics TumorNext-HRD+CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4

More info about this panel
United States.

TumorNext-Lynch+CancerNext Panel

United States.

By Ambry Genetics TumorNext-Lynch+CancerNext that also includes the following genes: BMPR1A BRAF BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1

More info about this panel
United States.

Hereditary Colorectal and Gastrointestinal Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Colorectal and Gastrointestinal Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A PALB2

More info about this panel
United States.

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel
United States.

Hereditary colon cancer (panel NGS of 21 genes) Panel

Portugal.

By CGC Genetics Hereditary colon cancer (panel NGS of 21 genes) that also includes the following genes: BMPR1A STK11 EPCAM TGFBR2 TP53 CDH1 GALNT12 APC SMAD4 MLH1

More info about this panel
Portugal.

Progeroid syndromes (NGS panel for 12 genes) Panel

Portugal.

By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6

More info about this panel
Portugal.

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2

More info about this panel
Portugal.

Hereditary colon cancer (panel NGS of 21 genes) Panel

Portugal.

By CGC Genetics Hereditary colon cancer (panel NGS of 21 genes) that also includes the following genes: BMPR1A STK11 EPCAM TGFBR2 TP53 CDH1 GALNT12 APC SMAD4 MLH1

More info about this panel
Portugal.

Progeroid syndromes (NGS panel for 12 genes) Panel

Portugal.

By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6

More info about this panel
Portugal.

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2

More info about this panel
Portugal.

Hereditary colorectal cancer Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master Hereditary colorectal cancer that also includes the following genes: BMPR1A STK11 APC SMAD4 MLH1 MLH3 MSH2 MSH6 MUTYH PMS2

More info about this panel
Poland.

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel
United States.

Colorectal Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Colorectal Cancer Sequencing Panel with CNV Detection that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GALNT12 GREM1 APC SMAD4 MLH1

More info about this panel
United States.

Colorectal Cancer Predisposition via POLD1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the POLD1 gene.

More info about this panel
United States.

Hereditary Polyposis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Polyposis Sequencing Panel with CNV Detection that also includes the following genes: APC MSH3 MUTYH NTHL1 POLD1 POLE

More info about this panel
United States.

Hereditary Endometrial Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Endometrial Cancer Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 EPCAM TP53 MLH1 MSH2 MSH6 MUTYH PMS2 POLD1

More info about this panel
United States.

Progeroid syndromes and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

Progeroid syndromes and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

Progeroid syndromes and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel
United States.

POLD1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the POLD1 gene.

More info about this panel
Germany.

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel
Germany.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLD1 gene.

More info about this panel
Germany.

CentoCancer panel Panel

Germany.

By Centogene AG - the Rare Disease Company CentoCancer panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A

More info about this panel
Germany.

CentoColon extended panel Panel

Germany.

By Centogene AG - the Rare Disease Company CentoColon extended panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MLH1 MSH2 MSH6

More info about this panel
Germany.

Colon Cancer Panel Panel

Germany.

By CeGaT GmbH Colon Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 RINT1 FLCN APC SMAD4 MLH1 MSH2

More info about this panel
Germany.

Progeria syndromes Panel Panel

Germany.

By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

More info about this panel
Germany.

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel
Estonia.

Comprehensive Hereditary Cancer Panel - APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Panel

Canada.

By Advanced Molecular Diagnostics Mount Sinai Hospital Comprehensive Hereditary Cancer Panel - APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 PALB2 FANCC

More info about this panel
Canada.

Gastrointestinal Cancer Panel (15 genes) APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLE, POLD1, PTEN, SMAD4, STK11, TP53 Panel

Canada.

By Advanced Molecular Diagnostics Mount Sinai Hospital Gastrointestinal Cancer Panel (15 genes) APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLE, POLD1, PTEN, SMAD4, STK11, TP53 that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MLH1 MSH2 MSH6

More info about this panel
Canada.

Inherited Cancer Screen Panel

United States.

By Counsyl Inherited Cancer Screen that also includes the following genes: SDHA SDHB SDHC BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel
United States.

qCancer Risk Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Risk that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1

More info about this panel
Spain.

qCancer Risk Expanded Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Risk Expanded that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1

More info about this panel
Spain.

qCancer Gine Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Gine that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 PALB2 MLH1 MRE11

More info about this panel
Spain.

qCancer Colorrectal Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Colorrectal that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel
Spain.

Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) Panel

United States.

By Invitae Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM

More info about this panel
United States.

Invitae Multi-Cancer Panel Panel

United States.

By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel
United States.

Invitae Colorectal Cancer Panel Panel

United States.

By Invitae Invitae Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel
United States.

Hereditary Cancer Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel
United States.

Gastrointestinal and Colorectal Cancer: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Gastrointestinal and Colorectal Cancer: Sequencing Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 TP53 CDH1 CDKN2A APC SMAD4

More info about this panel
United States.

Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A APC

More info about this panel
United States.

Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel
United States.

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel
United States.

POLD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POLD1 gene.

More info about this panel
United States.

Focus Cancer Panel - 40 Genes Panel

United States.

By Fulgent Genetics Fulgent Genetics Focus Cancer Panel - 40 Genes that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

More info about this panel
United States.

Colorectal Cancer Focus Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Colorectal Cancer Focus Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 APC SMAD4 MLH1 MSH2 MSH6 MUTYH

More info about this panel
United States.

Endometrial Cancer Focus Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Endometrial Cancer Focus Panel that also includes the following genes: BRCA1 BRCA2 EPCAM TP53 MLH1 MSH2 MSH6 PMS2 POLD1 PTEN

More info about this panel
United States.

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel
United States.

Endometrial Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Endometrial Cancer Comprehensive Panel that also includes the following genes: BRCA1 BRCA2 EPCAM TP53 MLH1 MSH2 MSH6 PMS2 POLD1 PTEN

More info about this panel
United States.

Colorectal Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Colorectal Cancer Comprehensive Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 GALNT12 GREM1 APC SMAD4 MLH1 MLH3

More info about this panel
United States.

MyVantage(TM) Hereditary Comprehensive Cancer Panel Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano MyVantage(TM) Hereditary Comprehensive Cancer Panel that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel
United States.

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel
Finland.

Hereditary Colorectal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A STK11 EPCAM TP53 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel
Finland.

Hereditary Gastrointestinal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Gastrointestinal Cancer Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel
Finland.

Hereditary Cancer High Risk Panel Panel

Finland.

By Blueprint Genetics Hereditary Cancer High Risk Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

More info about this panel
Finland.

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel
United States.

Gynecologic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1

More info about this panel
United States.

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

More info about this panel
United States.

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel
United States.

Hereditary Cancer Panel

United States.

By Color Hereditary Cancer that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A GREM1 BRIP1

More info about this panel
United States.

COLORECTAL CANCER HEREDITARY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL COLORECTAL CANCER HEREDITARY NGS PANEL that also includes the following genes: BMPR1A STK11 EPCAM TGFBR2 TP53 GREM1 APC SMAD4 MLH1 MLH3

More info about this panel
Spain.

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel
United States.

genTrue Panel

United States.

By True Health Diagnostics genTrue that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1

More info about this panel
United States.

Phosphorus Colorectal Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel
United States.

Phosphorus Pan-Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel
United States.

Phosphorus Common/High Risk Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Common/High Risk Cancers Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

More info about this panel
United States.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel
Canada.

Gastrointestinal and Colorectal Cancer: gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Gastrointestinal and Colorectal Cancer: gene sequencing Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 TP53 CDH1 CDKN2A APC SMAD4

More info about this panel
Canada.

Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A APC

More info about this panel
Canada.

Hereditary Cancer Syndrome: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel
Canada.

Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel
Canada.

PrimBio Colorectal Cancer Panel Panel

United States.

By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2

More info about this panel
United States.

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