CBL gene related symptoms and diseases
All the information presented here about the CBL 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 CBL gene
Symptoms // Phenotype | % Cases |
---|---|
Generalized hypotonia | Very Common - Between 80% and 100% cases |
Anteverted nares | Very Common - Between 80% and 100% cases |
Splenomegaly | Very Common - Between 80% and 100% cases |
Abnormal facial shape | Very Common - Between 80% and 100% cases |
Leukemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CBL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Juvenile myelomonocytic leukemia
- Monocytosis
- Facial hypotonia
Not very common - Between 30% and 50% cases
- Mitral regurgitation
- Epistaxis
- Low posterior hairline
- Fine hair
- Lymphedema
And 115 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CBL gene
Here you will find a list of rare diseases related to the CBL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JUVENILE MYELOMONOCYTIC LEUKEMIA
Alternate names
JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia, jmml, leukemia, juvenile myelomonocytic
Description
Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009).
Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA
- Generalized hypotonia
- Abnormal facial shape
- Anemia
- Anteverted nares
- Splenomegaly
More info about JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
Alternate names
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome, noonan syndrome-like disorder with jmml, cbl syndrome
Description
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.
Most common symptoms of NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Growth delay
More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
Search interest in CBL
Potential gene panels for CBL gene
PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel
By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8
More info about this panelHereditary Leukemia/Lymphoma Panel Panel
By Baylor Miraca Genetics Laboratories Hereditary Leukemia/Lymphoma Panel that also includes the following genes: RUNX1 BRCA2 TP53 CBL CEBPA SBDS BRIP1 PALB2 GATA2 ATM
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
More info about this panelNon-immune Hydrops Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panelNGS RASopathy Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS RASopathy Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 KAT6B SPRED1 A2ML1
More info about this panelComprehensive Cardiac Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panelNoonan Syndrome 11-Gene Sequencing Panel Panel
By Center for Human Genetics, Inc Noonan Syndrome 11-Gene Sequencing Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 KRAS LZTR1 NRAS PTPN11
More info about this panelNoonan Spectrum Disorders Panel Panel
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital Noonan Spectrum Disorders Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 A2ML1 HRAS KRAS MAP2K1
More info about this panelRasopathy NextGen Panel Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Rasopathy NextGen Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panelJuvenile Myelomonocytic Leukemia Panel
By UCSF Molecular Diagnostics Laboratory University of California, San Francisco Juvenile Myelomonocytic Leukemia that also includes the following genes: CBL SETBP1 RRAS2 ASXL1 SH2B3 JAK3 KRAS NF1 NRAS PTPN11
More info about this panelCardiomyopathy Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panelNoonan Syndrome Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Noonan Syndrome Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panelMyeloidDx by NGS Panel
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelMyeloidDx by NGS Panel
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelNoonan Spectrum Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Noonan Spectrum Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2
More info about this panelTier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel Panel
By Genetic Services Laboratory University of Chicago Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel that also includes the following genes: BLM BRCA1 BRCA2 TP53 CBL MLH1 MSH2 MSH6 NF1 ATM
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SRP72
More info about this panelHereditary Leukemia and Breast Cancer Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Leukemia and Breast Cancer Panel that also includes the following genes: RUNX1 BLM BRCA1 BRCA2 SRP72 TERC TERT TP53 IKZF1 SAMD9
More info about this panelNoonan Syndrome Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Noonan Syndrome Sequencing Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NF1
More info about this panelNoonan Syndrome Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Noonan Syndrome Deletion/Duplication Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS
More info about this panelHereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panelExpanded RASopathy Panel (14 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Expanded RASopathy Panel (14 Genes) that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2
More info about this panelNoonan Spectrum Disorders Panel, Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics Noonan Spectrum Disorders Panel, Sequencing that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 KAT6B SPRED1 RAB40AL HRAS KRAS
More info about this panelNoonan Spectrum Disorders Panel, Sequencing, Fetal Panel
By ARUP Laboratories, Molecular Genetics and Genomics Noonan Spectrum Disorders Panel, Sequencing, Fetal that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 KAT6B SPRED1 RAB40AL HRAS KRAS
More info about this panelNoonan Spectrum Disorders Panel Panel
By GeneDx Noonan Spectrum Disorders Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
More info about this panelNoonan syndrome/RASopathy Disorders Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Noonan syndrome/RASopathy Disorders Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1 HRAS
More info about this panelAutism/Intellectual Disability/Multiple Anomalies Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panelLymphedema NGS Multi-Gene Panel (36 Genes) Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1
More info about this panelCBL. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CBL gene.
More info about this panelPTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
More info about this panelNoonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2, and SPRED1 Next Generation Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Noonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2, and SPRED1 Next Generation Sequence Analysis that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panelNoonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia - CBL Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the CBL gene.
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 panelNoonan Syndrome Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Noonan Syndrome Seq Analysis that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panelNoonan-like syndrome with or without juvenile myelomonocytic leukemia 1 (sequence analysis of CBL gene) Panel
By CGC Genetics
This panel specifically test the CBL gene.
More info about this panelNoonan syndrome and rasopathies (NGS panel for 13 genes) Panel
By CGC Genetics Noonan syndrome and rasopathies (NGS panel for 13 genes) that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NF1
More info about this panelNon-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication Panel
By Medical Genomics Laboratory Department of Genetics UAB Non-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1
More info about this panelRASopathy Next Generation Sequencing and Deletion/Duplication Panel
By Medical Genomics Laboratory Department of Genetics UAB RASopathy Next Generation Sequencing and Deletion/Duplication that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1
More info about this panelCBL-Related Disorders via CBL Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CBL gene.
More info about this panelNoonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SPRY1 CBL SHOC2 KAT6B A2ML1
More info about this panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panelFetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panelNoonan spectrum disorder Comprehensive panel Panel
By Connective Tissue Gene Tests Noonan spectrum disorder Comprehensive panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panelNoonan spectrum disorder Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Noonan spectrum disorder Deletion / Duplication panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panelNoonan spectrum disorder NGS panel Panel
By Connective Tissue Gene Tests Noonan spectrum disorder NGS panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panelNoonan syndrome core Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Noonan syndrome core Deletion / Duplication panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1
More info about this panelNoonan syndrome core Comprehensive panel Panel
By Connective Tissue Gene Tests Noonan syndrome core Comprehensive panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1
More info about this panelNoonan syndrome core NGS panel Panel
By Connective Tissue Gene Tests Noonan syndrome core NGS panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1
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 panelHeart Diseases - panels Panel
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
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 panelRASopathies Panel
By MGZ Medical Genetics Center RASopathies that also includes the following genes: RRAS BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2
More info about this panelNoonan Syndrome Panel
By MGZ Medical Genetics Center Noonan Syndrome that also includes the following genes: RRAS SOS1 CBL SHOC2 KRAS NRAS PTPN11 RAF1 RASA2
More info about this panelCongenital heart defects panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2
More info about this panelMyeloid Tumor Panel Panel
By Centogene AG - the Rare Disease Company Myeloid Tumor Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelNoonan syndrome-like disorder with or without juvenile meylomonocytic leukemia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CBL gene.
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 panelRASopathies Panel Panel
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panelRASopathies Panel Panel
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panelRASopathies Panel Panel
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panelNoonan Syndrome Panel
By Asper Biogene Asper Biogene LLC Noonan Syndrome that also includes the following genes: BRAF SOS1 CBL SHOC2 KAT6B SPRED1 HRAS KRAS LZTR1 MAP2K1
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelRasopathies NGS Panel Panel
By Health in Code Rasopathies NGS Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panelCongenital Heart Diseases Panel Panel
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelCongenital heart diseases Panel Panel
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panelNGS HemeOnc Panel Panel
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti NGS HemeOnc Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 WT1 CBL SETBP1 PHF6 ASXL1
More info about this panelRASOPATHY-RELATED SYNDROME Panel
By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute RASOPATHY-RELATED SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS
More info about this panelNOONAN SYNDROME Panel
By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute NOONAN SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS LZTR1
More info about this panelInvitae Congenital Heart Defects and Heterotaxy Panel Panel
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panelInvitae Congenital Heart Disease Panel Panel
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panelInvitae Noonan Syndrome Panel Panel
By Invitae Invitae Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS MAP2K1
More info about this panelInvitae RASopathies Comprehensive Panel Panel
By Invitae Invitae RASopathies Comprehensive Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS
More info about this panelNOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panelNoonan Syndrome and Related Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Noonan Syndrome and Related Disorders: Sequencing Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panelNoonan Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Noonan Syndrome NGS Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelCBL Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CBL gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelOnco microarray for MDS/AML Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelComprehensive Short Stature Syndrome Panel Panel
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panelHereditary Leukemia Panel Panel
By Blueprint Genetics Hereditary Leukemia Panel that also includes the following genes: RIT1 RUNX1 BLM BRAF BRCA1 BRCA2 SOS1 SRP72 EPCAM TERC
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 panelCongenital Structural Heart Disease Panel Panel
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelBone Marrow Failure Syndrome Panel Panel
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelNoonan Syndrome Panel Panel
By Blueprint Genetics Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panelHypertrophic Cardiomyopathy (HCM) Panel Panel
By Blueprint Genetics Hypertrophic Cardiomyopathy (HCM) Panel that also includes the following genes: BRAF SLC25A4 SOS1 TNNI3 TNNT2 TPM1 TTR ACTA1 ELAC2 JPH2
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelNoonan Syndrome Panel Panel
By Insight Medical Genetics Noonan Syndrome Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panelFocus::Myeloid™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelFocus::Myeloid™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panelFocus::MDS™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MDS™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CBL
More info about this panelFocus::MPN™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MPN™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 CALR CBL SETBP1 ASXL1 CEBPA
More info about this panelFocus::AML™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::AML™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CALR
More info about this panelNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Panel
By Bioarray
This panel specifically test the CBL gene.
More info about this panelHematopoietic Disorders Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1
More info about this panelNoonan Syndrome Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Noonan Syndrome Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 KRAS MAP2K1 NRAS PTPN11 RAF1
More info about this panelNoonan Syndrome and related disorders (RASopathies) Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Noonan Syndrome and related disorders (RASopathies) Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
More info about this panelCBL Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CBL gene.
More info about this panelFoundationOne® Panel
By Foundation Medicine, Inc. FoundationOne® that also includes the following genes: CBL ABL1
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 panelCardiomyopathy Exome Panel Panel
By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
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 panelNOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL A2ML1 NSUN2 KRAS LZTR1
More info about this panelNOONAN-LIKE SYNDROME Panel
By Laboratorio de Genetica Clinica SL NOONAN-LIKE SYNDROME that also includes the following genes: RRAS CBL SHOC2 A2ML1 NSUN2 MAP2K2
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 panelNoonan-Like Syndrome with or without Juvenile Myelomonocytic Leukemia , Sequencing CBL Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CBL gene.
More info about this panelNoonan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel
By Reference Laboratory Genetics Noonan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS MAP2K1 MAP2K2 NRAS
More info about this panelJuvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CBL KRAS NF1 NRAS PTPN11
More info about this panelPhosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panelPhosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF
More info about this panelPhosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panelPhosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1
More info about this panelPhosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1
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
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