SMAD4 gene related symptoms and diseases

All the information presented here about the SMAD4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SMAD4 gene

Symptoms // Phenotype % Cases
Colon cancer Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Telangiectasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SMAD4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Gastrointestinal hemorrhage
  • Epistaxis
  • Jaundice
  • Rarely - Less than 30% cases

  • Fatigue
  • Breast carcinoma
  • Melanoma
  • Anemia
  • Respiratory distress

And 255 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SMAD4 gene

Here you will find a list of rare diseases related to the SMAD4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY HEMORRHAGIC TELANGIECTASIA

Alternate names

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht, rendu-osler disease, rendu-osler-weber disease

Description

Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

Most common symptoms of HEREDITARY HEMORRHAGIC TELANGIECTASIA

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

SOURCES: ORPHANET

GENERALIZED JUVENILE POLYPOSIS/JUVENILE POLYPOSIS COLI

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Alternate names

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht, polyposis, generalized juvenile, with pulmonary arteriovenous malformation, telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli, juvenile polyposis with hereditary hemorrhagic telangiectasia, jp/hht syndrome

Description

The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

Most common symptoms of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

SOURCES: OMIM

JUVENILE POLYPOSIS SYNDROME; JPS

Alternate names

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal, pji, jip, juvenile intestinal polyposis, polyposis, familial, of entire gastrointestinal tract

Description

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

Most common symptoms of JUVENILE POLYPOSIS SYNDROME; JPS

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


More info about JUVENILE POLYPOSIS SYNDROME; JPS

SOURCES: OMIM

MYHRE SYNDROME

Alternate names

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, laps syndrome, growth-mental deficiency syndrome of myhre, facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Description

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

Most common symptoms of MYHRE SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about MYHRE SYNDROME

SOURCES: OMIM ORPHANET MESH

FAMILIAL PANCREATIC CARCINOMA

Alternate names

FAMILIAL PANCREATIC CARCINOMA Is also known as familial atypical multiple mole melanoma-pancreatic carcinoma syndrome, fammmpc, familial pancreatic cancer

Description

Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.

Most common symptoms of FAMILIAL PANCREATIC CARCINOMA

  • Neoplasm
  • Diabetes mellitus
  • Abdominal pain
  • Weight loss
  • Jaundice


More info about FAMILIAL PANCREATIC CARCINOMA

SOURCES: OMIM ORPHANET

PANCREATIC CANCER

Alternate names

PANCREATIC CANCER Is also known as pancreatic carcinoma, pancreatic acinar carcinoma

Description

Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

Most common symptoms of PANCREATIC CANCER

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


More info about PANCREATIC CANCER

SOURCES: ORPHANET OMIM


Potential gene panels for SMAD4 gene

Hereditary Pancreatic Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDK4 CDKN2A PALB2 APC

More info about this panel
United States.

High Risk Hereditary Colorectal Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories High Risk Hereditary Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 APC SMAD4 MLH1 MSH2 MSH6 MUTYH

More info about this panel
United States.

Comprehensive Hereditary Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM

More info about this panel
United States.

Hereditary Colorectal/Gastrointestinal Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Colorectal/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.

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel
United States.

Arterial Hypertension Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Arterial Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4

More info about this panel
United States.

NGS Vascular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1

More info about this panel
United States.

SMAD4 Gene Characterization Panel

United States.

By Molecular Pathology Laboratory University of Pennsylvania Health System

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Loeys-Dietz syndrome - full panel Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Loeys-Dietz syndrome - full panel that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 SMAD3 SMAD4

More info about this panel
Canada.

Loeys-Dietz syndrome - familial variant analysis Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Loeys-Dietz syndrome - familial variant analysis that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 SMAD3 SMAD4

More info about this panel
Canada.

Familial Aneurysm Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Familial Aneurysm Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1

More info about this panel
United States.

SMAD4 full gene sequencing Panel

United States.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Juvenile Polyposis Syndrome (JPS), SMAD4, Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Inherited Cancer Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2

More info about this panel
United States.

VistaSeq Hereditary Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Hereditary Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1

More info about this panel
Canada.

Vistaseq Hereditary Cancer Panel Without BRCA Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Vistaseq Hereditary Cancer Panel Without BRCA that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1 ABRAXAS1 PALB2

More info about this panel
Canada.

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.

SMAD4 Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Hereditary Hemorrhagic Telangiectasia Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Hereditary Hemorrhagic Telangiectasia that also includes the following genes: ACVRL1 ENG SMAD4

More info about this panel
United States.

Juvenile Polyposis SMAD4 Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Pulmonary Arterial Hypertension Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pulmonary Arterial Hypertension Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4 SMAD9

More info about this panel
United States.

Hereditary Gastric Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Gastric Cancer Panel that also includes the following genes: SDHB SDHC BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CTNNA1

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 Hemorrhagic Telangiectasia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel
United States.

Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

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.

SMAD4 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the SMAD4 gene.

More info about this panel
Germany.

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.

Hereditary Cancer Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 EPCAM TP53

More info about this panel
United States.

Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication that also includes the following genes: ACVRL1 ENG SMAD4

More info about this panel
United States.

Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel
United States.

Aortopathy Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Aortopathy Panel, Sequencing and Deletion/Duplication that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2

More info about this panel
United States.

Juvenile Polyposis (SMAD4) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Juvenile Polyposis (SMAD4) Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Vascular Malformations Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Vascular Malformations Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 KCNK3

More info about this panel
United States.

Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4

More info about this panel
United States.

Comprehensive Cancer Panel Panel

United States.

By GeneDx Comprehensive Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL XRCC2 CDH1 CDK4

More info about this panel
United States.

Oncology High/Moderate Risk Panel Panel

United States.

By GeneDx Oncology High/Moderate Risk Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDKN2A BRIP1

More info about this panel
United States.

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.

OncoGeneDx Custom Panel Panel

United States.

By GeneDx OncoGeneDx Custom Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL XRCC2 CDH1 CDK4

More info about this panel
United States.

Connective Tissue Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S

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.

COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel

United States.

By Ambry Genetics COL3A1 gene sequence and deletion/duplication reflex TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1

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.

CustomNext: Cardio Panel

United States.

By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20

More info about this panel
United States.

TAADNext Panel

United States.

By Ambry Genetics TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1

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.

FBN1 gene sequence and deletion/duplication reflex TAADNext Panel

United States.

By Ambry Genetics FBN1 gene sequence and deletion/duplication reflex TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1

More info about this panel
United States.

HHTNext Panel

United States.

By Ambry Genetics HHTNext that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel
United States.

BMPR1A and SMAD4 gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics BMPR1A and SMAD4 gene sequence and deletion/duplication that also includes the following genes: BMPR1A SMAD4

More info about this panel
United States.

SMAD4 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the SMAD4 gene.

More info about this panel
Netherlands.

Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2

More info about this panel
Netherlands.

SMAD4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SMAD4 gene.

More info about this panel
Spain.

BMPR1A, SMAD4. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica BMPR1A, SMAD4. NextGeneDx. Complete sequencing by NGS that also includes the following genes: BMPR1A SMAD4

More info about this panel
Spain.

ACVRL1, ENG, SMAD4. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica ACVRL1, ENG, SMAD4. NextGeneDx. Complete sequencing by NGS that also includes the following genes: ACVRL1 ENG SMAD4

More info about this panel
Spain.

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.

Hereditary High-Risk Colorectal Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary High-Risk Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 APC SMAD4 MLH1 MSH2 MSH6 MUTYH

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 Pancreatic Cancer Panel Panel

United States.

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

More info about this panel
United States.

Pulmonary Hypertension Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq + Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel
United States.

Pulmonary Hypertension Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq Analysis that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel
United States.

Pulmonary Hypertension Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel
United States.

Connective Tissue Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2

More info about this panel
United States.

Comprehensive Pulmonary-Vascular Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel
United States.

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel
United States.

Connective Tissue Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1

More info about this panel
United States.

Connective Tissue Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1

More info about this panel
United States.

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel
United States.

Rendu-Osler-Weber disease (sequence analysis of SMAD4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SMAD4 gene.

More info about this panel
Portugal.

Pancreatic familial cancer, susceptibility to (sequence analysis of MADH4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SMAD4 gene.

More info about this panel
Portugal.

Osler-Rendu-Weber disease (deletion/duplication analysis on SMAD4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SMAD4 gene.

More info about this panel
Portugal.

OncoRisk (NGS panel for 48 genes) Panel

Portugal.

By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel
Portugal.

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

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.

Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

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.

Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel
Portugal.

Hereditary Hemorrhagic Telangiectasia Panel

United States.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

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.

Hereditary Hemorrhagic Telangiectasia Panel

Canada.

By Impact Genetics Impact Genetics Hereditary Hemorrhagic Telangiectasia that also includes the following genes: ACVRL1 ENG SMAD4

More info about this panel
Canada.

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.

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

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.

Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel with CNV Detection that also includes the following genes: ACVRL1 ENG SMAD4

More info about this panel
United States.

Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via SMAD4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel
United States.

Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 FOXE3 LOX

More info about this panel
United States.

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel
United States.

SMAD4 Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the SMAD4 gene.

More info about this panel
Slovakia.

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

More info about this panel
United States.

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

More info about this panel
United States.

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

More info about this panel
United States.

Hereditary Hemorrhagic telangiectasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia Comprehensive panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel
United States.

Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel
United States.

Hereditary Hemorrhagic telangiectasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia NGS panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel
United States.

Vascular malformations Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel
United States.

Vascular malformations NGS panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel
United States.

Vascular malformations Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel
United States.

Myhre syndrome Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Myhre syndrome Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Myhre syndrome Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Connective tissue disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel
United States.

Connective tissue disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel
United States.

Connective tissue disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Marfan syndrome, EDS and other connective tissue disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5

More info about this panel
Germany.

SMAD4-Related Hereditary Hemorrhagic Telangiectasia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SMAD4 gene.

More info about this panel
Germany.

SMAD4-Related Juvenile Polyposis Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SMAD4 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.

Colorectal Cancer Panel

Germany.

By MGZ Medical Genetics Center Colorectal Cancer that also includes the following genes: BMPR1A STK11 BUB1B TP53 APC SMAD4 MET MLH1 MSH2 MSH6

More info about this panel
Germany.

Polyposis Coli Panel

Germany.

By MGZ Medical Genetics Center Polyposis Coli that also includes the following genes: BMPR1A STK11 APC SMAD4 MUTYH PTEN

More info about this panel
Germany.

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel
Germany.

Solid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A

More info about this panel
Germany.

Pancreatic cancer, somatic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SMAD4 gene.

More info about this panel
Germany.

Hereditary hemorrhagic telangiectasia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Hereditary hemorrhagic telangiectasia panel that also includes the following genes: ACVRL1 ADAM17 ENG GDF2 SMAD4 PTPN14 RASA1

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.

Juvenile polyposis syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SMAD4 gene.

More info about this panel
Germany.

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SMAD4 gene.

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.

Single gene testing SMAD4 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SMAD4 gene.

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.

Polyposis Syndromes Panel

Estonia.

By Asper Biogene Asper Biogene LLC Polyposis Syndromes that also includes the following genes: BMPR1A STK11 APC SMAD4 MUTYH PTEN

More info about this panel
Estonia.

Juvenile Polyposis Syndrome, SMAD4 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Hereditary Haemorrhagic Telangiectasia Panel Panel

Spain.

By Health in Code Hereditary Haemorrhagic Telangiectasia Panel that also includes the following genes: BMPR2 ACVRL1 ENG GDF2 SMAD1 SMAD4

More info about this panel
Spain.

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel
Spain.

Aortic Valvular Diseases Panel Panel

Spain.

By Health in Code Aortic Valvular Diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ADAMTSL4 COL1A2

More info about this panel
Spain.

Pulmonary Hypertension Panel Panel

Spain.

By Health in Code Pulmonary Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG GDF2 KCNA5 KCNK3 SMAD1 SMAD4

More info about this panel
Spain.

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel
Spain.

Hereditary hemorrhagic telangiectasia Panel Panel

Spain.

By Health in Code Hereditary hemorrhagic telangiectasia Panel that also includes the following genes: BMPR1A BMPR2 ACVRL1 BMP10 ENG GDF2 SMAD1 SMAD4 RASA1

More info about this panel
Spain.

Pulmonary hypertension Panel Panel

Spain.

By Health in Code Pulmonary hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 TOPBP1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5

More info about this panel
Spain.

Aortic diseases Panel Panel

Spain.

By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5

More info about this panel
Spain.

Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4, GDF2) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4, GDF2) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel
Belgium.

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.

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel
Spain.

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 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 Aortopathy Comprehensive Panel Panel

United States.

By Invitae Invitae Aortopathy Comprehensive Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1

More info about this panel
United States.

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 Gastric Cancer Panel Panel

United States.

By Invitae Invitae Gastric Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A STK11 EPCAM TP53 CDH1 APC

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 Hereditary Hemorrhagic Telangiectasia Panel Panel

United States.

By Invitae Invitae Hereditary Hemorrhagic Telangiectasia Panel that also includes the following genes: ACVRL1 ENG SMAD4 RASA1

More info about this panel
United States.

Invitae Pediatric Solid Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11

More info about this panel
United States.

Invitae Pancreatic Cancer Panel Panel

United States.

By Invitae Invitae Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDKN2A

More info about this panel
United States.

Invitae Juvenile Polyposis Syndrome Panel Panel

United States.

By Invitae Invitae Juvenile Polyposis Syndrome Panel that also includes the following genes: BMPR1A SMAD4

More info about this panel
United States.

Invitae Colorectal Cancer Guidelines-Based Panel Panel

United States.

By Invitae Invitae Colorectal Cancer Guidelines-Based Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 APC SMAD4 MLH1 MSH2 MSH6 MUTYH

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.

Polyposis, Juvenile: SMAD4 (MADH4) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SMAD4 gene.

More info about this panel
Spain.

COLON CANCER Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COLON CANCER that also includes the following genes: BMPR1A STK11 EPCAM FLCN ENG APC SMAD4 MLH1 MSH2 MSH3

More info about this panel
Spain.

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

More info about this panel
Spain.

COLON, BREAST AND OVARIAN CANCER Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COLON, BREAST AND OVARIAN CANCER that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2

More info about this panel
Spain.

Hereditary hemorrhagic telangiectasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hereditary hemorrhagic telangiectasia that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel
Spain.

NGS panel - Aortic or arterial dilatation / dissection Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Aortic or arterial dilatation / dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2

More info about this panel
Netherlands.

NGS panel- Aortic or arterial dilatation/dissection Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2

More info about this panel
Netherlands.

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1

More info about this panel
Netherlands.

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1

More info about this panel
Netherlands.

Juvenile Polyposis Syndrome: SMAD4 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Juvenile Polyposis Syndrome: SMAD4 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Pulmonary Arterial Hypertension: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Arterial Hypertension: Sequencing Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG GDF2 SMAD4 SMAD9 RASA1

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.

High Risk Colorectal Cancer: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics High Risk Colorectal Cancer: Sequencing Panel that also includes the following genes: BLM BMPR1A STK11 TP53 CDH1 APC SMAD4 MLH1 MSH2 MSH6

More info about this panel
United States.

Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDKN2A PALB2 APC SMAD4 MLH1 MSH2

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.

Hereditary Hemorrhagic Telangiectasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Hemorrhagic Telangiectasia: Sequencing Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

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 Hemorrhagic Telangiectasia: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel
United States.

High Risk Colorectal Cancer: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics High Risk Colorectal Cancer: Deletion/Duplication Panel that also includes the following genes: BLM BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MLH1 MSH2

More info about this panel
United States.

Colon Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Colon Cancer NGS Panel that also includes the following genes: BMPR1A STK11 BUB1B EPCAM TP53 CDH1 CDKN2A GALNT12 FLCN EXO1

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.

Hereditary Hemorrhagic Telangiectasia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Hemorrhagic Telangiectasia NGS Panel that also includes the following genes: ACVRL1 ENG SMAD4 ATM RASA1

More info about this panel
United States.

SMAD4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SMAD4 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.

Pancreatic Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pancreatic Cancer Comprehensive Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDK4

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.

Gastric Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Gastric Cancer Comprehensive Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC KIT SMAD4 MLH1 MSH2

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.

GIvantage Hereditary Colon Cancer Panel Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano GIvantage Hereditary Colon Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MLH1 MSH2 MSH6

More info about this panel
United States.

Juvenile Polyposis Panel (BMPR1A and SMAD4) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Juvenile Polyposis Panel (BMPR1A and SMAD4) that also includes the following genes: BMPR1A SMAD4

More info about this panel
United States.

Hereditary hemorrhagic telangiectasia (HHT) Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hereditary hemorrhagic telangiectasia (HHT) that also includes the following genes: BMPR2 CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 SMAD4 RASA1

More info about this panel
United States.

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel
Finland.

Hereditary Pediatric Cancer Panel Panel

Finland.

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

More info about this panel
Finland.

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 Pancreatic Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 BUB1B EPCAM TP53 TSC1 TSC2 VHL

More info about this panel
Finland.

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel
Finland.

Pulmonary Artery Hypertension (PAH) Panel Panel

Finland.

By Blueprint Genetics Pulmonary Artery Hypertension (PAH) Panel that also includes the following genes: BMPR2 TBX4 CAV1 NFU1 ACVRL1 EIF2AK4 ENG FOXF1 KCNA5 KCNK3

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.

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel
Finland.

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel
Finland.

Micromelic Dysplasia Panel Panel

Finland.

By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2

More info about this panel
Finland.

Hereditary Hemorrhagic Telangiectasia (HHT) Panel Panel

Finland.

By Blueprint Genetics Hereditary Hemorrhagic Telangiectasia (HHT) Panel that also includes the following genes: ACVRL1 ENG SMAD4 RASA1

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.

Vascular Malformations Panel Panel

Finland.

By Blueprint Genetics Vascular Malformations Panel that also includes the following genes: SOX18 TEK GLMN KRIT1 STAMBP ELMO2 ACVRL1 CCM2 ENG SMAD4

More info about this panel
Finland.

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel
Finland.

COLOTRUE™ Panel

United States.

By Pathway Genomics COLOTRUE™ that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MDM2 MLH1 MSH2

More info about this panel
United States.

Juvenile polyposis syndrome Panel

Spain.

By Bioarray

This panel specifically test the SMAD4 gene.

More info about this panel
Spain.

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.

Head & Neck Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A

More info about this panel
United States.

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

iGene Cancer Panel Panel

United States.

By ApolloGen, Inc. iGene Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 TP53 VHL CDH1 CDKN2A BRIP1 PALB2

More info about this panel
United States.

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel
United States.

Guardant360 Panel

United States.

By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A

More info about this panel
United States.

Comprehensive Panel for Individualized Cancer Threatment Panel

Greece.

By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1

More info about this panel
Greece.

Cancer Hotspot Analysis Panel

United States.

By Advanced Technology Laboratory Spectrum Health Cancer Hotspot Analysis that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel
United States.

Circulo Colorectal Panel

United States.

By Circulogene Theranostics

This panel specifically test the SMAD4 gene.

More info about this panel
United States.

Circulo Pancreatic Panel

United States.

By Circulogene Theranostics

This panel specifically test the SMAD4 gene.

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.

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

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.

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel
United States.

Otogenetics Hereditary Cancers Panel

United States.

By Otogenetics Otogenetics Hereditary Cancers that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL ELAC2 PALLD CDH1

More info about this panel
United States.

POLYPOSIS, JUVENILE Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYPOSIS, JUVENILE that also includes the following genes: BMPR1A SMAD4 PTEN

More info about this panel
Spain.

HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel
Spain.

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.

POLYPOSIS, FAMILIAL ADENOMATOUS (FAP) & POLYPOSIS, JUVENILE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYPOSIS, FAMILIAL ADENOMATOUS (FAP) & POLYPOSIS, JUVENILE NGS PANEL that also includes the following genes: BMPR1A APC SMAD4 MSH3 MUTYH AXIN2 PTEN

More info about this panel
Spain.

HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) SANGER PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) SANGER PANEL that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

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.

Juvenile Polyposis, Sequencing SMAD4 (MADH4) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SMAD4 gene.

More info about this panel
Spain.

Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMPR1A STK11 EPCAM FLCN ENG APC SMAD4 MLH1 MSH2 MSH3

More info about this panel
Spain.

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel
Spain.

Hereditary Hemorrhagic Telangiectasia , Sequencing (ENG, ACVRL1 and SMAD4) Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Hemorrhagic Telangiectasia , Sequencing (ENG, ACVRL1 and SMAD4) Genes that also includes the following genes: ACVRL1 ENG SMAD4

More info about this panel
Spain.

Familial Pancreatic Cancer , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Pancreatic Cancer , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: BRCA1 BRCA2 STK11 TGFBR2 TP53 CDKN2A PALB2 APC KRAS SMAD4

More info about this panel
Spain.

Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel

Spain.

By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1

More info about this panel
Spain.

Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: BMPR1A STK11 APC SMAD4 MUTYH NTHL1 PTEN

More info about this panel
Spain.

Hereditary Gastric Cancer , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Gastric Cancer , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: BMPR1A EPCAM CDH1 SMAD4 MLH1 MSH2 MSH6 PMS2

More info about this panel
Spain.

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 Pancreatic Cancer including Chronic Pancreatitis Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 SPINK1 STK11 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel
United States.

Phosphorus Pancreatic Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2 VHL CDKN2A

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.

Phosphorus Pediatric Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM

More info about this panel
United States.

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

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.

CEN4GEN Colorectal cancer: Extended Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Colorectal cancer: Extended Sequencing Panel that also includes the following genes: BRAF TCF7L2 TGFBR2 TP53 CASP8 TCERG1 GALNT17 FBXW7 ACVR1B CDC27

More info about this panel
Canada.

CEN4GEN Lung cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A

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.

High Risk Colorectal Cancer: Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics High Risk Colorectal Cancer: Sequencing Panel that also includes the following genes: BLM BMPR1A STK11 TP53 CDH1 APC SMAD4 MLH1 MSH2 MSH6

More info about this panel
Canada.

High Risk Colorectal Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics High Risk Colorectal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: BLM BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MLH1 MSH2

More info about this panel
Canada.

CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel
Canada.

Juvenile Polyposis Syndrome: SMAD4 Gene Deletion/Duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SMAD4 gene.

More info about this panel
Canada.

Juvenile Polyposis Syndrome: SMAD4 Gene Sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SMAD4 gene.

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.

Myhre Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SMAD4 gene.

More info about this panel
Canada.

PrimBio Cancer HotSpot Panel Panel

United States.

By PrimBio Research Institute PrimBio Research Institute PrimBio Cancer HotSpot Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel
United States.

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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