RB1 gene related symptoms and diseases

All the information presented here about the RB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RB1 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Retinoblastoma Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Sarcoma
  • Pain
  • Abnormal facial shape
  • Anemia
  • Carcinoma
  • Short stature
  • Hypotrichosis
  • Pruritus

And 252 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RB1 gene

Here you will find a list of rare diseases related to the RB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


STEVENS-JOHNSON SYNDROME

Alternate names

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Description

Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Most common symptoms of STEVENS-JOHNSON SYNDROME

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia


More info about STEVENS-JOHNSON SYNDROME

SOURCES: MESH OMIM ORPHANET

MONOSOMY 13Q14

Alternate names

MONOSOMY 13Q14 Is also known as del(13)(q14), chromosome 13q deletion syndrome, deletion 13q14

Description

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

Most common symptoms of MONOSOMY 13Q14

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about MONOSOMY 13Q14

SOURCES: ORPHANET MESH OMIM

HYPOTRICHOSIS 8; HYPT8

Alternate names

HYPOTRICHOSIS 8; HYPT8 Is also known as lah3, hypotrichosis, localized, autosomal recessive 3

Description

Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006).Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011).Woolly hair is also a feature of several syndromes, such as Naxos disease (OMIM ) and cardiofaciocutaneous syndrome (OMIM ) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (OMIM ) (Carvajal-Huerta, 1998). Genetic Heterogeneity of Hypotrichosis and Woolly HairFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (OMIM ).For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6 ).Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2 ) is caused by mutation in the LIPH gene (OMIM ) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (OMIM ) is caused by mutation in the KRT25 gene (OMIM ) on chromosome 17q21.An autosomal dominant form of woolly hair with hypotrichosis (HYPT13 ) is caused by mutation in the KRT71 gene (OMIM ) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH ) with normal hair density is caused by mutation in the KRT74 gene (OMIM ) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3 ) as well as an ectodermal dysplasia of the hair/nail type (ECTD7 ).

Most common symptoms of HYPOTRICHOSIS 8; HYPT8

  • Cardiomyopathy
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema


More info about HYPOTRICHOSIS 8; HYPT8

SOURCES: OMIM MESH

SÉZARY SYNDROME

Alternate names

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Description

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

Most common symptoms of SÉZARY SYNDROME

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


More info about SÉZARY SYNDROME

SOURCES: MESH ORPHANET

GASTROINTESTINAL STROMAL TUMOR

Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

OSTEOSARCOMA

Alternate names

OSTEOSARCOMA Is also known as osteogenic sarcoma

Description

Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.

Most common symptoms of OSTEOSARCOMA

  • Pain
  • Fever
  • Weight loss
  • Abnormality of the metaphysis
  • Osteolysis


More info about OSTEOSARCOMA

SOURCES: ORPHANET

OSTEOGENIC SARCOMA

Alternate names

OSTEOGENIC SARCOMA Is also known as osteosarcoma, osrc

Most common symptoms of OSTEOGENIC SARCOMA

  • Short stature
  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Sarcoma
  • Osteosarcoma


More info about OSTEOGENIC SARCOMA

SOURCES: OMIM ORPHANET

RETINOBLASTOMA; RB1

Alternate names

RETINOBLASTOMA; RB1 Is also known as rb

Description

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

Most common symptoms of RETINOBLASTOMA; RB1

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


More info about RETINOBLASTOMA; RB1

SOURCES: OMIM ORPHANET

BLADDER CANCER

Description

The bladder is a hollow organ in your lower abdomen that stores urine. Bladder cancer occurs in the lining of the bladder. It is the sixth most common type of cancer in the United States. Symptoms include Blood in your urine A frequent urge to urinate Pain when you urinate Low back pain Risk factors for developing bladder cancer include smoking and exposure to certain chemicals in the workplace. People with a family history of bladder cancer or who are older, white, or male have a higher risk. Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute

Most common symptoms of BLADDER CANCER

  • Neoplasm
  • Carcinoma
  • Atherosclerosis
  • Bladder neoplasm
  • Transitional cell carcinoma of the bladder


More info about BLADDER CANCER

SOURCES: ORPHANET OMIM

SMALL CELL LUNG CANCER

Alternate names

SMALL CELL LUNG CANCER Is also known as sclc, sccl, sclc1

Description

Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.

Most common symptoms of SMALL CELL LUNG CANCER

  • Neoplasm
  • Carcinoma
  • Subcutaneous nodule
  • Neoplasm of the lung
  • Retinoblastoma


More info about SMALL CELL LUNG CANCER

SOURCES: ORPHANET OMIM

HEREDITARY RETINOBLASTOMA

NON-HEREDITARY RETINOBLASTOMA


Potential gene panels for RB1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

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 Brain/CNS/PNS Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Brain/CNS/PNS Cancer Panel that also includes the following genes: SMARCB1 TP53 VHL SUFU ALK APC MEN1 MLH1 MSH2 MSH6

More info about this panel
Canada.

Retinoblastoma Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine

This panel specifically test the RB1 gene.

More info about this panel
United States.

Genetic testing in retinoblastoma Panel

Germany.

By Eye Cancer Genetics Universitätsklinikum Essen

This panel specifically test the RB1 gene.

More info about this panel
Germany.

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.

Retinoblastoma Panel

Australia.

By Genetic Pathology SA Pathology

This panel specifically test the RB1 gene.

More info about this panel
Australia.

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.

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.

MelanomaNext Panel

United States.

By Ambry Genetics MelanomaNext that also includes the following genes: BRCA2 TP53 CDK4 CDKN2A MITF BAP1 PTEN RB1

More info about this panel
United States.

RB1 gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics

This panel specifically test the RB1 gene.

More info about this panel
United States.

RB1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RB1 gene.

More info about this panel
Spain.

RB1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RB1 gene.

More info about this panel
Spain.

Hereditary Melanoma Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Melanoma Panel that also includes the following genes: BRCA1 BRCA2 TERT TP53 WRN CDK4 CDKN2A BAP1 PTEN RB1

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.

Retinoblastoma (methylation and deletion/duplication analysis on RB1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RB1 gene.

More info about this panel
Portugal.

Retinoblastoma (deletion/duplication analysis of RB1) Panel

Portugal.

By CGC Genetics

This panel specifically test the RB1 gene.

More info about this panel
Portugal.

Retinoblastoma (sequence analysis of RB1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RB1 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.

Retinoblastoma Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the RB1 gene.

More info about this panel
India.

RB1 testing for Retinoblastoma Panel

Canada.

By Impact Genetics Impact Genetics RB1 testing for Retinoblastoma that also includes the following genes: MYCN RB1

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.

Retinoblastoma via RB1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RB1 gene.

More info about this panel
United States.

Melanoma Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Melanoma Sequencing Panel with CNV Detection that also includes the following genes: BRCA2 TP53 POT1 CDK4 CDKN2A MITF BAP1 PTEN RB1

More info about this panel
United States.

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.

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.

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

Retinoblastoma Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RB1 gene.

More info about this panel
Germany.

RB1 Mutation Screening Panel

United Kingdom.

By Retinoblastoma Genetic Screening Unit Barts Health NHS Trust

This panel specifically test the RB1 gene.

More info about this panel
United Kingdom.

RB1 Linkage Analysis Panel

United Kingdom.

By Retinoblastoma Genetic Screening Unit Barts Health NHS Trust

This panel specifically test the RB1 gene.

More info about this panel
United Kingdom.

Fluorescent in situ Hybridization - Hematopathology Panel

United States.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB

More info about this panel
United States.

Familial Tumor Syndromes Panel Panel

Germany.

By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2

More info about this panel
Germany.

Familial melanoma Panel Panel

Germany.

By CeGaT GmbH Familial melanoma Panel that also includes the following genes: POT1 CDK4 CDKN2A MC1R MITF BAP1 PTEN RB1

More info about this panel
Germany.

Retinoblastoma Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the RB1 gene.

More info about this panel
Poland.

Retinoblastoma, RB1 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the RB1 gene.

More info about this panel
Israel.

Retinoblastoma, RB1 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the RB1 gene.

More info about this panel
Israel.

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.

Retinoblastoma Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the RB1 gene.

More info about this panel
Estonia.

Retinoblastoma, RB1 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the RB1 gene.

More info about this panel
United States.

RB1 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the RB1 gene.

More info about this panel
Austria.

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.

Invitae Sarcoma Panel Panel

United States.

By Invitae Invitae Sarcoma Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1

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 Melanoma Panel Panel

United States.

By Invitae Invitae Melanoma Panel that also includes the following genes: BRCA2 TP53 POT1 CDK4 CDKN2A MITF BAP1 PTEN RB1

More info about this panel
United States.

Invitae Nervous System/Brain Cancer Panel Panel

United States.

By Invitae Invitae Nervous System/Brain Cancer Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1

More info about this panel
United States.

Invitae Pediatric Nervous System/Brain Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Nervous System/Brain Tumors Panel that also includes the following genes: SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1 ALK

More info about this panel
United States.

Invitae Retinoblastoma Test Panel

United States.

By Invitae

This panel specifically test the RB1 gene.

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.

Retinoblastoma: RB1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the RB1 gene.

More info about this panel
Spain.

Retinoblastoma -RB1 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the RB1 gene.

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.

Retinoblastoma: RB1 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the RB1 gene.

More info about this panel
United States.

Retinoblastoma: RB1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the RB1 gene.

More info about this panel
United States.

Melanoma: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Melanoma: Sequencing Panel that also includes the following genes: BRAF WRN CDK4 CDKN2A GNAQ KIT KRAS MAP2K1 NRAS PIK3CA

More info about this panel
United States.

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel
United States.

Melanoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Melanoma NGS Panel that also includes the following genes: BRCA1 BRCA2 TERT TP53 TYR WRN CDK4 CDKN2A ERCC3 MC1R

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.

RB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RB1 gene.

More info about this panel
United States.

Melanoma Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Melanoma Comprehensive Panel that also includes the following genes: BRCA2 TP53 CDK4 CDKN2A MITF BAP1 PTEN RB1

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.

Sarcoma Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Sarcoma Comprehensive Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1

More info about this panel
United States.

Onco microarray for ALL Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for ALL that also includes the following genes: BTG1 TP53 IKZF1 CDKN2A EBF1 ETV6 JAK2 PAX5 PDGFRB RB1

More info about this panel
United States.

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel
United States.

Retinoblastoma Panel

Spain.

By Bioarray

This panel specifically test the RB1 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.

CNS Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1

More info about this panel
United States.

Melanoma Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1

More info about this panel
United States.

Breast Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Breast Tumors Gene Set that also includes the following genes: RUNX1 BRAF BRCA1 BRCA2 STK11 TP53 FBXW7 RAD54B CDH1 CDK4

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.

Thoracic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Thoracic Tumors Gene Set that also includes the following genes: RIT1 ROS1 BRAF SMARCA4 STK11 MED12 TP53 TSC1 TSC2 KMT2C

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.

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 Pancreatic Panel

United States.

By Circulogene Theranostics

This panel specifically test the RB1 gene.

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.

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.

RETINOBLASTOMA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the RB1 gene.

More info about this panel
Spain.

Retinoblastoma (RB1) Sanger sequencing and Del/Dup Panel

United States.

By Children's Hospital of Los Angeles, Center for Personalized Medicine

This panel specifically test the RB1 gene.

More info about this panel
United States.

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.

Retinoblastoma, Sequencing RB1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RB1 gene.

More info about this panel
Spain.

Retinoblastoma, Deletions-Duplications (MLPA) RB1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RB1 gene.

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 Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes that also includes the following genes: BLM SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1 CDKN1C

More info about this panel
Spain.

Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: BRCA2 TERT TP53 CDK4 CDKN2A MC1R MITF BAP1 PTEN RB1

More info about this panel
Spain.

Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: BRAF BRCA2 TP53 EGFR ERBB2 IDH1 IDH2 LGI1 PRKN PIK3CA

More info about this panel
Spain.

Phosphorus Brain and Nervous System Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1

More info about this panel
United States.

Phosphorus Melanoma Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Melanoma Panel that also includes the following genes: BRCA2 TP53 POT1 CDK4 CDKN2A MITF BAP1 PTEN RB1

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 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.

Retinoblastoma: RB1 Gene Deletion/Duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the RB1 gene.

More info about this panel
Canada.

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 Breast cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16

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.

CEN4GEN Ovarian cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Ovarian cancer: Extended gene sequencing Panel that also includes the following genes: BRAF BRCA1 BRCA2 ARID1A TP53 USP16 MAS1L CCNE1 CBLC KREMEN1

More info about this panel
Canada.

CEN4GEN Prostate cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Prostate cancer: Extended gene sequencing Panel that also includes the following genes: SCN11A SPOP TBX20 MED12 TP53 NIPA2 PDZRN3 CDKN1B CDKN2A KLF6

More info about this panel
Canada.

Melanoma: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Melanoma: Gene Sequencing Panel that also includes the following genes: BRCA1 TP53 WRN CDK4 CDKN2A KIT MGMT NRAS BAP1 PTEN

More info about this panel
Canada.

Melanoma: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Melanoma: Gene Deletion/Duplication Panel that also includes the following genes: BRAF BRCA2 TP53 WRN CDK4 CDKN2A KIT NRAS BAP1 PTEN

More info about this panel
Canada.

CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF BRCA1 BRCA2 SMO STK11 TP53 VHL WT1 CDKN2A CTNNB1

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.

Retinoblastoma: RB1 Gene Sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the RB1 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.

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