BAP1 gene related symptoms and diseases

All the information presented here about the BAP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BAP1 gene

Symptoms // Phenotype % Cases
Nevus Very Common - Between 80% and 100% cases
Melanoma Very Common - Between 80% and 100% cases
Cutaneous melanoma Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Basal cell carcinoma Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with BAP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Carcinoma
  • Uveal melanoma
  • Neoplasm of the pancreas
  • Not very common - Between 30% and 50% cases

  • Abnormal visual accommodation
  • Photopsia
  • Subretinal fluid
  • Inferior lens subluxation
  • Choroidal melanoma

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to BAP1 gene

Here you will find a list of rare diseases related to the BAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL MELANOMA


Description

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Most common symptoms of FAMILIAL MELANOMA

  • Retinopathy
  • Dry skin
  • Nevus
  • Abnormality of extrapyramidal motor function
  • Abnormality of the hair


More info about FAMILIAL MELANOMA

SOURCES: ORPHANET

UVEAL MELANOMA


Alternate names

UVEAL MELANOMA Is also known as choroidal melanoma, iris melanoma

Description

Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

Most common symptoms of UVEAL MELANOMA

  • Neoplasm
  • Visual loss
  • Carcinoma
  • Retinal detachment
  • Nevus


More info about UVEAL MELANOMA

SOURCES: ORPHANET OMIM

BAP1-RELATED TUMOR PREDISPOSITION SYNDROME


Alternate names

BAP1-RELATED TUMOR PREDISPOSITION SYNDROME Is also known as tumor susceptibility linked to germline bap1 mutations

Description

BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.

Most common symptoms of BAP1-RELATED TUMOR PREDISPOSITION SYNDROME

  • Neoplasm
  • Carcinoma
  • Papule
  • Nevus
  • Melanoma


More info about BAP1-RELATED TUMOR PREDISPOSITION SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for BAP1 gene

Inherited Cancer Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2

More info about this panel

Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1 Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1 that also includes the following genes: GNA11 GNAQ BAP1

More info about this panel

BAP1 Germline Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine

This panel specifically test the BAP1 gene.

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

United States.

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 panel

Hereditary Melanoma Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Melanoma Sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN POT1 CDK4 CDKN2A ACD MC1R POLE

More info about this panel

Germline BAP1 mutations Panel

France.

By Service de Génétique Gustave Roussy

This panel specifically test the BAP1 gene.

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 Renal Cancer Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD TP53 TSC1 TSC2 VHL FLCN FH MET

More info about this panel

Renal Cancer Panel Panel

United States.

By GeneDx Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN FH

More info about this panel

BAP1 gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics

This panel specifically test the BAP1 gene.

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

MelanomaNext Panel

United States.

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

More info about this panel

RenalNext Panel

United States.

By Ambry Genetics RenalNext that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN

More info about this panel

BAP1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the BAP1 gene.

More info about this panel

Hereditary Melanoma Panel Panel

United States.

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

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Hereditary Kidney Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Kidney Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 TSC1 TSC2 VHL WT1 CDC73

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

BAP1 Tumor Predisposition Syndrome Panel

Canada.

By Impact Genetics Impact Genetics

This panel specifically test the BAP1 gene.

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

Renal Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Renal Cancer Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Tumor Predisposition Syndrome, Uveal Melanoma and Mesothelioma via BAP1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BAP1 gene.

More info about this panel

Melanoma Sequencing Panel with CNV Detection Panel

United States.

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

More info about this panel

Custom solid tumor gene sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A

More info about this panel

Custom gene seqeuncing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S

More info about this panel

Familial Melanoma panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Familial Melanoma panel that also includes the following genes: POT1 CDK4 CDKN2A ACD MC1R MITF BAP1

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

Renal Cancer Panel

Germany.

By MGZ Medical Genetics Center Renal Cancer that also includes the following genes: SDHB SDHC SDHD SMARCB1 TP53 TSC1 TSC2 VHL WT1 FLCN

More info about this panel

Tumor predisposition syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BAP1 gene.

More info about this panel

Familial Tumor Syndromes Panel Panel

Germany.

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

More info about this panel

Familial melanoma Panel Panel

Germany.

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

More info about this panel

Renal cell carcinoma Panel Panel

Germany.

By CeGaT GmbH Renal cell carcinoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM HNF1A HNF1B TP53 TSC1 TSC2

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

Invitae BAP1 Hereditary Cancer Predisposition Syndrome Test Panel

United States.

By Invitae

This panel specifically test the BAP1 gene.

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 Renal/Urinary Tract Cancers Panel Panel

United States.

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 panel

Invitae Melanoma Panel Panel

United States.

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

More info about this panel

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

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

Melanoma: Sequencing Panel Panel

United States.

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

More info about this panel

Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDKN2A PALB2 APC SMAD4 MLH1 MSH2

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

Pancreatic Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pancreatic Cancer NGS Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDKN2A PALB2 APC MLH1 MSH2

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

Kidney Renal Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Kidney Renal Cancer NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN

More info about this panel

Renal/Kidney NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Renal/Kidney NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

BAP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BAP1 gene.

More info about this panel

Focus Cancer Panel - 40 Genes Panel

United States.

By Fulgent Genetics Fulgent Genetics Focus Cancer Panel - 40 Genes that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

More info about this panel

Melanoma Comprehensive Panel Panel

United States.

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

More info about this panel

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

Renal / Urinary Cancer Comprehensive Panel Panel

United States.

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 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

Hereditary Renal Cancer Panel Panel

Finland.

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 panel

Hereditary Cancer High Risk Panel Panel

Finland.

By Blueprint Genetics Hereditary Cancer High Risk Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

More info about this panel

Focus::Renal® NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL

More info about this panel

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel

Melanoma Gene Set Panel

United States.

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

More info about this panel

Genitourinary Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1

More info about this panel

Thoracic Tumors Gene Set Panel

United States.

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

More info about this panel

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

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

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

Hereditary Cancer Panel

United States.

By Color Hereditary Cancer that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A GREM1 BRIP1

More info about this panel

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel

MELANOMA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MELANOMA NGS PANEL that also includes the following genes: BRCA1 BRCA2 TERT TP53 WRN POT1 CDK4 CDKN2A CDKN2B TERF2IP

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

BAP1-Related Tumor Predisposition Syndrome , Sequencing BAP1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BAP1 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

Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes that also includes the following genes: SDHB SDHD EPCAM HNF1A HNF1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

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

Spain.

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

More info about this panel

Phosphorus Melanoma Panel Panel

United States.

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

More info about this panel

Phosphorus Renal/Urinary Tract Cancer Panel Panel

United States.

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 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 Common/High Risk Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Common/High Risk Cancers Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

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

Renal Cancer: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Sequencing Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

Renal Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1

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

CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

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

More info about this panel

CEN4GEN Lung cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A

More info about this panel

Melanoma: Gene Sequencing Panel Panel

Canada.

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

More info about this panel

Melanoma: Gene Deletion/Duplication Panel Panel

Canada.

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

More info about this panel

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

BAP1 Tumor Predisposition Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the BAP1 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CCDC103 CDCA7 PRSS2 CCND3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more