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
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
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).
Most common symptoms of HYPOTRICHOSIS 8; HYPT8
- Cardiomyopathy
- Alopecia
- Hyperhidrosis
- Hyperkeratosis
- Erythema
More info about HYPOTRICHOSIS 8; HYPT8
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
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
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
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
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
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
HEREDITARY RETINOBLASTOMA
NON-HEREDITARY RETINOBLASTOMA
Search interest in RB1
Potential gene panels for RB1 gene
MitoMet®Plus aCGH Analysis Panel
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 panelInherited Cancer Panel Panel
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 panelVistaSeq Brain/CNS/PNS Cancer Panel Panel
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 panelRetinoblastoma Panel
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
This panel specifically test the RB1 gene.
More info about this panelGenetic testing in retinoblastoma Panel
By Eye Cancer Genetics Universitätsklinikum Essen
This panel specifically test the RB1 gene.
More info about this panelHereditary Cancer Panel, Sequencing and Deletion/Duplication Panel
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 panelRetinoblastoma Panel
By Genetic Pathology SA Pathology
This panel specifically test the RB1 gene.
More info about this panelCancerNext-Expanded Panel
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 panelCustomNext: Cancer Panel
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 panelMelanomaNext Panel
By Ambry Genetics MelanomaNext that also includes the following genes: BRCA2 TP53 CDK4 CDKN2A MITF BAP1 PTEN RB1
More info about this panelRB1 gene sequence and deletion/duplication Panel
By Ambry Genetics
This panel specifically test the RB1 gene.
More info about this panelRB1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RB1 gene.
More info about this panelRB1. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RB1 gene.
More info about this panelHereditary Melanoma Panel Panel
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 panelCHOP Comprehensive Hereditary Cancer Panel Panel
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 panelRetinoblastoma (methylation and deletion/duplication analysis on RB1 gene) Panel
By CGC Genetics
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma (deletion/duplication analysis of RB1) Panel
By CGC Genetics
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma (sequence analysis of RB1 gene) Panel
By CGC Genetics
This panel specifically test the RB1 gene.
More info about this panelOncoRisk (NGS panel for 48 genes) Panel
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 panelOncoRisk Plus (NGS panel for 89 genes) Panel
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 panelRetinoblastoma Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the RB1 gene.
More info about this panelRB1 testing for Retinoblastoma Panel
By Impact Genetics Impact Genetics RB1 testing for Retinoblastoma that also includes the following genes: MYCN RB1
More info about this panelCancer Sequencing Panel with CNV Detection Panel
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 panelRetinoblastoma via RB1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the RB1 gene.
More info about this panelMelanoma Sequencing Panel with CNV Detection Panel
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 panelHereditary Cancer Syndromes - panels Panel
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 panelCancer Hotspot Panel Panel
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 panelSolid Tumor Panel Panel
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 panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelRetinoblastoma Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the RB1 gene.
More info about this panelRB1 Mutation Screening Panel
By Retinoblastoma Genetic Screening Unit Barts Health NHS Trust
This panel specifically test the RB1 gene.
More info about this panelRB1 Linkage Analysis Panel
By Retinoblastoma Genetic Screening Unit Barts Health NHS Trust
This panel specifically test the RB1 gene.
More info about this panelFluorescent in situ Hybridization - Hematopathology Panel
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 panelFamilial Tumor Syndromes Panel Panel
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 panelFamilial melanoma Panel Panel
By CeGaT GmbH Familial melanoma Panel that also includes the following genes: POT1 CDK4 CDKN2A MC1R MITF BAP1 PTEN RB1
More info about this panelRetinoblastoma Panel
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma, RB1 Panel
By GGA - Galil Genetic Analysis
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma, RB1 Panel
By GGA - Galil Genetic Analysis
This panel specifically test the RB1 gene.
More info about this panelCancer Predisposition Panel
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 panelRetinoblastoma Panel
By Asper Biogene Asper Biogene LLC
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma, RB1 sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the RB1 gene.
More info about this panelRB1 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the RB1 gene.
More info about this panelqChip Panel
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 panelInvitae Sarcoma Panel Panel
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 panelInvitae Multi-Cancer Panel Panel
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 panelInvitae Melanoma Panel Panel
By Invitae Invitae Melanoma Panel that also includes the following genes: BRCA2 TP53 POT1 CDK4 CDKN2A MITF BAP1 PTEN RB1
More info about this panelInvitae Nervous System/Brain Cancer Panel Panel
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 panelInvitae Pediatric Nervous System/Brain Tumors Panel Panel
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 panelInvitae Retinoblastoma Test Panel
By Invitae
This panel specifically test the RB1 gene.
More info about this panelInvitae Pediatric Solid Tumors Panel Panel
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 panelRetinoblastoma: RB1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma -RB1 gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RB1 gene.
More info about this panelONCOLOGY, PANEL Panel
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 panelRetinoblastoma: RB1 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma: RB1 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the RB1 gene.
More info about this panelMelanoma: Sequencing Panel Panel
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 panelEye Disorders NGS Panel Panel
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 panelMelanoma NGS Panel Panel
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 panelHereditary Cancer NGS Panel Panel
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 panelRB1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RB1 gene.
More info about this panelMelanoma Comprehensive Panel Panel
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 panelComprehensive Cancer Panel Panel
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 panelSarcoma Comprehensive Panel Panel
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 panelOnco microarray for ALL Panel
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 panelHemato-oncology chromosomal microarray Panel
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 panelRetinoblastoma Panel
By Bioarray
This panel specifically test the RB1 gene.
More info about this panelSolid Tumor Gene Set Panel
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 panelCNS Tumor Gene Set Panel
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 panelMelanoma Gene Set Panel
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 panelBreast Tumors Gene Set Panel
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 panelGynecologic Tumors Gene Set Panel
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 panelHead & Neck Tumors Gene Set Panel
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 panelThoracic Tumors Gene Set Panel
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 panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelFoundationOne® Heme Panel
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 panelGuardant360 Panel
By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A
More info about this panelComprehensive Panel for Individualized Cancer Threatment Panel
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 panelCancer Hotspot Analysis Panel
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 panelCirculo Pancreatic Panel
By Circulogene Theranostics
This panel specifically test the RB1 gene.
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
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 panelCaris MI TumorSeek 592-Gene NGS Panel Panel
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 panelOmniSeq Comprehensive Panel
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 panelRETINOBLASTOMA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma (RB1) Sanger sequencing and Del/Dup Panel
By Children's Hospital of Los Angeles, Center for Personalized Medicine
This panel specifically test the RB1 gene.
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
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 panelRetinoblastoma, Sequencing RB1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the RB1 gene.
More info about this panelRetinoblastoma, Deletions-Duplications (MLPA) RB1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the RB1 gene.
More info about this panelOncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
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 panelHereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes Panel
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 panelCutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes Panel
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 panelGlioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes Panel
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 panelPhosphorus Brain and Nervous System Cancer Panel Panel
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 panelPhosphorus Melanoma Panel Panel
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 panelPhosphorus Pan-Cancer Panel Panel
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 panelPhosphorus Pediatric Cancers Panel Panel
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 panel152 Integrated Advantage NGS Solid Tumor Panel Panel
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 panelTempus xT assay Panel
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 panelTempus xO assay Panel
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 panelRetinoblastoma: RB1 Gene Deletion/Duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the RB1 gene.
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
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 panelCEN4GEN Breast cancer: Extended gene sequencing Panel Panel
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 panelCEN4GEN Lung cancer: Extended gene sequencing Panel Panel
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 panelCEN4GEN Ovarian cancer: Extended gene sequencing Panel Panel
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 panelCEN4GEN Prostate cancer: Extended gene sequencing Panel Panel
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 panelMelanoma: Gene Sequencing Panel Panel
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 panelMelanoma: Gene Deletion/Duplication Panel Panel
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 panelCEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel Panel
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 panelCEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel
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 panelRetinoblastoma: RB1 Gene Sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the RB1 gene.
More info about this panelPrimBio Cancer HotSpot Panel Panel
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
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