SMARCA4 gene related symptoms and diseases
All the information presented here about the SMARCA4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SMARCA4 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Uncommon - Between 30% and 50% cases |
Intrauterine growth retardation | Rare - less than 30% cases |
Embryonal neoplasm | Rare - less than 30% cases |
Neoplasm of the central nervous system | Rare - less than 30% cases |
Sarcoma | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with SMARCA4 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Carcinoma
- Lymphadenopathy
- Weight loss
- Fever
- Seizures
- Long eyelashes
- Dandy-Walker malformation
- Thick eyebrow
And 130 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SMARCA4 gene
Here you will find a list of rare diseases related to the SMARCA4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COFFIN-SIRIS SYNDROME
Alternate names
COFFIN-SIRIS SYNDROME Is also known as css
Description
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Most common symptoms of COFFIN-SIRIS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about COFFIN-SIRIS SYNDROME
SOURCES: ORPHANET
COFFIN-SIRIS SYNDROME 4; CSS4
Alternate names
COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16, mental retardation, autosomal dominant 16
Description
Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).
Most common symptoms of COFFIN-SIRIS SYNDROME 4; CSS4
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about COFFIN-SIRIS SYNDROME 4; CSS4
SOURCES: OMIM
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
RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Description
Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.
Most common symptoms of RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
- Neoplasm
- Pain
- Anemia
- Hypertension
- Fever
More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
Alternate names
RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 Is also known as brain tumor, posterior fossa, of infancy, familial
Description
The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999).Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).
Most common symptoms of RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
- Neoplasm
- Carcinoma
- Confusion
- Sarcoma
- Neuroblastoma
More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
SOURCES: OMIM
FAMILIAL RHABDOID TUMOR
Alternate names
FAMILIAL RHABDOID TUMOR Is also known as rhabdoid tumor predisposition syndrome, rtps
More info about FAMILIAL RHABDOID TUMOR
SOURCES: ORPHANET
SMALL CELL CARCINOMA OF THE OVARY
Alternate names
SMALL CELL CARCINOMA OF THE OVARY Is also known as small cell ovarian carcinoma, scco
Description
Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.
More info about SMALL CELL CARCINOMA OF THE OVARY
SOURCES: ORPHANET
SMARCA4-DEFICIENT SARCOMA OF THORAX
Alternate names
SMARCA4-DEFICIENT SARCOMA OF THORAX Is also known as smarca4-deficient thoracic sarcoma
More info about SMARCA4-DEFICIENT SARCOMA OF THORAX
SOURCES: ORPHANET
Search interest in SMARCA4
Potential gene panels for SMARCA4 gene
Coffin-Siris Syndrome Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Coffin-Siris Syndrome Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 BTD HDAC8 ADNP
More info about this panelSMARCA4 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SMARCA4 gene.
More info about this panelSMARCA4 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the SMARCA4 gene.
More info about this panelSMARCA4 deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the SMARCA4 gene.
More info about this panelCornelia de Lange Syndrome PLUS Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panelNon-Specific Intellectual Disability Panel Panel
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panelCoffin-Siris syndrome Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Sequencing Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11
More info about this panelCoffin-Siris syndrome Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Deletion/Duplication Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11
More info about this panelCornelia de Lange PLUS Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panelHereditary Cancer Panel - Breast/Ovarian/Uterine28 Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Breast/Ovarian/Uterine28 that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1 BRIP1
More info about this panelHereditary Cancer Panel- Comprehensive63 Panel
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 panelBrainTumorNext Panel
By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1
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 panelCancerNext Panel
By Ambry Genetics CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4
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 panelCustomNext: Neuro Panel
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelNeurodevelopment-Expanded Panel
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelOvaNext Panel
By Ambry Genetics OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panelTumorNext-HRD+CancerNext Panel
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 panelTumorNext-Lynch+CancerNext Panel
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 panelTumorNext-HRD+OvaNext Panel
By Ambry Genetics TumorNext-HRD+OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panelTumorNext-Lynch+OvaNext Panel
By Ambry Genetics TumorNext-Lynch+OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panelIDNext Panel
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panelSMARCA4. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SMARCA4 gene.
More info about this panelHereditary Breast, Ovarian, and Endometrial Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Breast, Ovarian, and Endometrial Cancer Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 WRN CDH1 BRIP1 PALB2
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 panelCoffin-Siris syndrome (sequence analysis of SMARCA4 gene) Panel
By CGC Genetics
This panel specifically test the SMARCA4 gene.
More info about this panelRhabdoid tumor syndrome (sequence analysis of SMARCA4 gene) Panel
By CGC Genetics
This panel specifically test the SMARCA4 gene.
More info about this panelCoffin-Siris syndrome (NGS panel of 5 genes) Panel
By CGC Genetics Coffin-Siris syndrome (NGS panel of 5 genes) that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B
More info about this panelOvarian Cancer and Rhabdoid Tumor Predisposition Syndrome via SMARCA4 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SMARCA4 gene.
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 panelCoffin-Siris Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Coffin-Siris Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B
More info about this panelCornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8
More info about this panelHereditary Ovarian Cancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Ovarian Cancer Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panelHereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1 BRIP1
More info about this panelCoffin-Siris syndrome Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Coffin-Siris syndrome that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B PHF6
More info about this panelMental retardation - different panels Panel
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 panelCoffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) Panel
By MGZ Medical Genetics Center Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B PHF6
More info about this panelSMARCA4 Panel
By MGZ Medical Genetics Center
This panel specifically test the SMARCA4 gene.
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
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 panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelMental retardation, autosomal dominant type 16 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SMARCA4 gene.
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 panelRhabdoid tumor predisposition syndrome 2 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the SMARCA4 gene.
More info about this panelRhabdoid tumor predisposition syndrome 2 Panel
By MedGene
This panel specifically test the SMARCA4 gene.
More info about this panelInvitae Rhabdoid Tumor Predisposition Syndrome Panel Panel
By Invitae Invitae Rhabdoid Tumor Predisposition Syndrome Panel that also includes the following genes: SMARCA4 SMARCB1
More info about this panelInvitae Small Cell Carcinoma of the Ovary Hypercalcemic Type Test Panel
By Invitae
This panel specifically test the SMARCA4 gene.
More info about this panelInvitae Common Hereditary Cancers Panel (Breast, Gyn, GI) Panel
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 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 Renal/Urinary Tract Cancers Panel Panel
By Invitae Invitae Renal/Urinary Tract Cancers Panel that also includes the following genes: SDHB SDHC SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL WT1
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 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 panelInvitae Breast and Gyn Cancers Panel Panel
By Invitae Invitae Breast and Gyn Cancers Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panelCOFFIN-SIRIS SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COFFIN-SIRIS SYNDROME that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B
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 panelHereditary Cancer Syndrome: Sequencing Panel Panel
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 panelBreast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelSMARCA4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SMARCA4 gene.
More info about this panelNervous System / Brain Cancer Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Nervous System / Brain Cancer Comprehensive Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1
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 panelOvarian Cancer Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Ovarian Cancer Comprehensive Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 BRIP1 MLH1 MRE11 MSH2
More info about this panelRenal / Urinary Cancer Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Renal / Urinary Cancer Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
More info about this panelHereditary Pediatric Cancer Panel Panel
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 panelComprehensive Hereditary Cancer Panel Panel
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 panelHereditary Breast and Gynecological Cancer Panel Panel
By Blueprint Genetics Hereditary Breast and Gynecological Cancer Panel that also includes the following genes: BLM BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1
More info about this panelHereditary Renal Cancer Panel Panel
By Blueprint Genetics Hereditary Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelFocus::MCL™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C
More info about this panelSchwannomatosis-1, susceptibility to Panel
By Bioarray
This panel specifically test the SMARCA4 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 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 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 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 panelRABDOID TUMOR Panel
By Laboratorio de Genetica Clinica SL RABDOID TUMOR that also includes the following genes: SMARCA4 SMARCB1
More info about this panelCOFFIN-SIRIS SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL COFFIN-SIRIS SYNDROME NGS PANEL that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B PHF6
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 panelCoffin-Siris Syndrome, Sequencing SMARCA4 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SMARCA4 gene.
More info about this panelOvarian Small Cell Carcinoma , Sequencing SMARCA4 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SMARCA4 gene.
More info about this panelCoffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Coffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B
More info about this panelMental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP
More info about this panelAutosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel
By Reference Laboratory Genetics Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SMARCA4 SMARCB1 ARID1A SYNGAP1 TRIO ZBTB18 CACNG2 DEAF1 SETBP1 ADNP
More info about this panelPhosphorus Ovarian/Uterine Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Ovarian/Uterine Cancer Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 EPCAM TP53 DICER1 BRIP1 PALB2 MLH1 MSH2
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 Renal/Urinary Tract Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Renal/Urinary Tract Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
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 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 panelBreast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2
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 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 panelHereditary Cancer Syndrome: Gene Sequencing Panel Panel
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
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