SUFU gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to SUFU gene

Symptoms // Phenotype % Cases
Neoplasm Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Medulloblastoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Macrocephaly
  • Frontal bossing
  • Polydactyly
  • Cryptorchidism
  • Postaxial polydactyly
  • Rarely - Less than 30% cases

  • Glaucoma
  • Iris coloboma
  • Arachnodactyly

And 185 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SUFU gene

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


JOUBERT SYNDROME 32; JBTS32


Description

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Most common symptoms of JOUBERT SYNDROME 32; JBTS32

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


More info about JOUBERT SYNDROME 32; JBTS32

SOURCES: OMIM

ACROCALLOSAL SYNDROME


Alternate names

ACROCALLOSAL SYNDROME Is also known as acs

Description

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

Most common symptoms of ACROCALLOSAL SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


More info about ACROCALLOSAL SYNDROME

SOURCES: ORPHANET OMIM

GORLIN SYNDROME


Alternate names

GORLIN SYNDROME Is also known as nbccs, basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome

Description

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

Most common symptoms of GORLIN SYNDROME

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


More info about GORLIN SYNDROME

SOURCES: ORPHANET

BASAL CELL NEVUS SYNDROME; BCNS


Alternate names

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome, gorlin syndrome, nbccs, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Most common symptoms of BASAL CELL NEVUS SYNDROME; BCNS

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


More info about BASAL CELL NEVUS SYNDROME; BCNS

SOURCES: OMIM

MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO


Description

Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001).Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (OMIM ), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2 ) associated with a mutation in the PTEN gene (OMIM ) developed a meningioma (Staal et al., 2002).

Most common symptoms of MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

  • Neoplasm
  • Meningioma
  • Medulloblastoma
  • Neoplasm of the central nervous system


More info about MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

SOURCES: OMIM MESH

GASTROINTESTINAL STROMAL TUMOR


Alternate names

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

Description

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

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

DESMOPLASTIC/NODULAR MEDULLOBLASTOMA


Description

Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.

Most common symptoms of DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

  • Neoplasm
  • Carcinoma
  • Nevus
  • Basal cell carcinoma
  • Colon cancer


More info about DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

SOURCES: ORPHANET OMIM

MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY


Alternate names

MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY Is also known as mben

Description

Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.


More info about MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY

SOURCES: ORPHANET

FAMILIAL MULTIPLE MENINGIOMA


Description

Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.


More info about FAMILIAL MULTIPLE MENINGIOMA

SOURCES: ORPHANET


Potential gene panels for SUFU gene

Hereditary Brain, CNS, PNS Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Brain, CNS, PNS Cancer Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MRE11 MSH2

More info about this panel

Hereditary Brain, CNS, PNS Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Brain, CNS, PNS Cancer Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MRE11 MSH2

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

United States.

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

More info about this panel

VistaSeq Brain/CNS/PNS Cancer Panel Panel

Canada.

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

More info about this panel

Hereditary Cancer Panel, Sequencing and Deletion/Duplication Panel

United States.

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

More info about this panel

Hereditary Cancer Panel - Neuro17 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Neuro17 that also includes the following genes: TP53 TSC1 TSC2 VHL SUFU ALK APC MEN1 MLH1 MSH2

More info about this panel

Hereditary Cancer Panel- Comprehensive63 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11

More info about this panel

BrainTumorNext Panel

United States.

By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1

More info about this panel

CancerNext-Expanded Panel

United States.

By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

CustomNext: Cancer Panel

United States.

By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

SUFU. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SUFU gene.

More info about this panel

Hereditary Brain Tumor Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Brain Tumor Panel that also includes the following genes: SMARCB1 TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2

More info about this panel

Medulloblastoma, desmoplastic (sequence analysis of SUFU gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SUFU gene.

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

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

More info about this panel

Meningiomatosis/ Multiple Meningioma NGS Panel Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB Meningiomatosis/ Multiple Meningioma NGS Panel that also includes the following genes: SMARCB1 SMARCE1 SUFU NF2

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via SUFU Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SUFU gene.

More info about this panel

Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Basal cell nevus syndrome Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Basal cell nevus syndrome Deletion/ Duplication panel that also includes the following genes: SUFU PTCH1 PTCH2

More info about this panel

Basal cell nevus syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Basal cell nevus syndrome Comprehensive panel that also includes the following genes: SUFU PTCH1 PTCH2

More info about this panel

Basal cell nevus syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Basal cell nevus syndrome NGS panel that also includes the following genes: SUFU PTCH1 PTCH2

More info about this panel

Joubert syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Joubert syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Joubert syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Basal cell nevus syndrome - SUFU Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SUFU gene.

More info about this panel

Basal cell nevus syndrome - SUFU NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SUFU gene.

More info about this panel

Basal cell nevus syndrome - SUFU Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SUFU gene.

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Basal cell nevus syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SUFU gene.

More info about this panel

Meningioma, familial, susceptibility to Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SUFU gene.

More info about this panel

Medulloblastoma, desmoplastic, familial Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SUFU gene.

More info about this panel

Single gene testing SUFU Panel

Germany.

By CeGaT GmbH

This panel specifically test the SUFU gene.

More info about this panel

SUFU Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the SUFU gene.

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

FAMILIAL MULTIPLE MENINGIOMA Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute FAMILIAL MULTIPLE MENINGIOMA that also includes the following genes: SMARCE1 SUFU MN1 NF2 PDGFB PTEN

More info about this panel

Invitae Sarcoma Panel Panel

United States.

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

More info about this panel

Invitae Multi-Cancer Panel Panel

United States.

By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Invitae Nervous System/Brain Cancer Panel Panel

United States.

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

More info about this panel

Invitae Pediatric Nervous System/Brain Tumors Panel Panel

United States.

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

More info about this panel

Invitae Pediatric Solid Tumors Panel Panel

United States.

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

More info about this panel

Invitae Basal Cell Nevus Syndrome Panel Panel

United States.

By Invitae Invitae Basal Cell Nevus Syndrome Panel that also includes the following genes: SUFU PTCH1

More info about this panel

Meningioma, familial: SUFU gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SUFU gene.

More info about this panel

Hereditary Cancer Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Brain, CNS, and PNS Cancer: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain, CNS, and PNS Cancer: Sequencing Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2 MSH6

More info about this panel

Brain, CNS, and PNS Cancer: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain, CNS, and PNS Cancer: Deletion/Duplication Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2 MSH6

More info about this panel

Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

SUFU Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SUFU gene.

More info about this panel

Nervous System / Brain Cancer Comprehensive Panel Panel

United States.

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 panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Sarcoma Comprehensive Panel Panel

United States.

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

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

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

More info about this panel

Hereditary Pediatric Cancer Panel Panel

Finland.

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

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

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

More info about this panel

Hereditary Melanoma and Skin Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Melanoma and Skin Cancer Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN XPA XPC SUFU POT1 CDK4 CDKN2A

More info about this panel

CNS Tumor Gene Set Panel

United States.

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

More info about this panel

FoundationOne® Heme Panel

United States.

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

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Familial Meningioma , Sequencing SUFU Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SUFU gene.

More info about this panel

Desmoplastic/Nodular Medulloblastoma , Sequencing SUFU Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SUFU gene.

More info about this panel

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

Spain.

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

More info about this panel

Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SMARCB1 SMARCE1 SUFU LZTR1 NF2 PDGFB PTEN

More info about this panel

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

Spain.

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

More info about this panel

Basal Cell Nevus Syndrome , Panel Massive Sequencing (NGS) PTCH1, PTCH2, SUFU Genes Panel

Spain.

By Reference Laboratory Genetics Basal Cell Nevus Syndrome , Panel Massive Sequencing (NGS) PTCH1, PTCH2, SUFU Genes that also includes the following genes: SUFU PTCH1 PTCH2

More info about this panel

Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SMARCE1 SUFU MN1 NF2 PDGFB PTEN

More info about this panel

Phosphorus Brain and Nervous System Cancer Panel Panel

United States.

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

More info about this panel

Phosphorus Pan-Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Phosphorus Pediatric Cancers Panel Panel

United States.

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

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Brain, CNS, and PNS Cancer: Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Brain, CNS, and PNS Cancer: Sequencing Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2 MSH6

More info about this panel

Brain, CNS, and PNS Cancer: Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Brain, CNS, and PNS Cancer: Deletion/Duplication Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2 MSH6

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Hereditary Cancer Syndrome: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

Nevoid Basal Cell Carcinoma Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nevoid Basal Cell Carcinoma Syndrome: gene sequencing panel that also includes the following genes: SUFU PTCH1

More info about this panel

Nevoid Basal Cell Carcinoma Syndrome: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nevoid Basal Cell Carcinoma Syndrome: gene deletion/duplication that also includes the following genes: SUFU PTCH1

More info about this panel


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