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NGS Target Enrichment Panels - Human Cancer


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This side lists target specific panels that detect genes or genome regions relevant for specific cancer types or classes of cancer. Additional, you can find some panels targeting cancer related genes/regions as well in the human genetics target enrichment panel category.


Global Genetic Testing Panels

Ion AmpliSeq™ Transcriptome Human Gene Expression Kit

The Ion AmpliSeq™ Transcriptome Human Gene Expression Kit enables the simultaneous measurement of the expression levels of over 20,000 human RefSeq genes in a single assay. Providing the ability to work directly with low input levels of total RNA derived from challenging samples such as formalin-fixed paraffin-embedded (FFPE) tissue or other samples with degraded RNA, the Ion AmpliSeq™ Transcriptome Human Gene Expression Kit is ideal for those interested in obtaining comprehensive, highly sensitive, and easily obtained gene expression measurements from a wide range of RNA sources.
Source: Thermo Fisher

Website

TruSight One

The TruSight One sequencing panel provides clinical genomics research laboratories with an affordable solution for managing a diverse assay portfolio. Developed by Illumina, the TruSight One sequencing panel provides comprehensive coverage of > 4,800 clinically relevant genes. Laboratories can analyze all of the genes on the panel or choose to focus on a specific subset. Use of this panel enables expansion of existing menus, streamlining of workflows, or creation of an entire portfolio of sequencing options. The result is increased productivity, reduced handling errors, decreased laboratory costs, and consistent reporting.
Source: Illumina

Website


General Cancer Testing Panels

Accel-Amplicon 56G Oncology Panel

The Accel-Amplicon 56G Oncology Panel offers comprehensive and hotspot coverage of 56 clinically-relevant oncology-related genes, using a 263-amplicon design to generate multiplex libraries compatible with Illumina sequencing platforms. This product is a complete kit that includes all elements necessary for generating ready-to-sequence libraries, including primer pairs and indexed sequencing adapters.
Source: Swift biosciences

Website

ACE Extended Cancer Panel

The ACE Extended Cancer Panel has been designed to support both discovery research and clinical trials. It provides more coverage of gene pathways and functions known to be involved in cancer biology than any other panel commercially available (TABLE 1). Up until now discovery researchers have had to make a choice between the breadth of sequencing used to find novel variants in cancer-related genes, and the depth of sequencing needed to identify variants present at low allelic fraction. The Personalis Extended Cancer Panel is the first service to combine the breadth of coverage for novel variant discovery across key cancer pathway genes, with the sequencing depth needed to detect variants present at low allelic fraction.
Source: Personalis

Website

ACE Extended Cancer Panel for RNA

Personalis’ ACE Extended Cancer Panel for RNA analysis allows for an unparalleled detection of unique variant types not identifiable by DNA sequencing analysis alone. Our panel is the first of its kind and targets the coding RNA of the over 1,300+ cancer panel genes, providing detection of important cancer associated features. For example, due to the breadth of our ACE Cancer Panel RNA sequencing, we are able to identify SNVs, Indels, gene expression levels, and gene fusion events in a very wide array of cancer-associated genes. Personalis’ ACE Extended Cancer Panel for RNA allows for extensive gene fusion discovery of both clinically actionable* fusions involving critical genes such as ALK, ROS1 and RET and novel fusions involving other targeted genes that might otherwise be missed.
Source: Personalis

Website

Cancer Hotspot Panel (NGS Panel)

covering most frequent mutations in genes ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL

Source: Centogene

CANCERNEXT

Ambry utilizes NGS to offer a comprehensive panel for hereditary breast, ovarian, uterine, and colorectal cancers. Genes on this panel include APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, and TP53. Full gene sequencing is performed for 30 of the genes (excluding EPCAM and GREM1). Gross deletion/duplication analysis is performed for all 32 genes.
Source: Ambry Genetics

CANCERNEXT-EXPANDED

Ambry utilizes NGS to offer a comprehensive hereditary pan-cancer panel. Genes on this panel include: APC, ATM, BAP1, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FH, FLCN, GREM1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TMEM127, TP53, TSC1, TSC2, VHL. Full gene sequencing is performed for 47 of the genes (excluding EPCAM and GREM1). For MITF, only the status of the c.952G>A (p.E318K) alteration is analyzed and reported. Gross deletion/duplication analysis is performed for 48 genes (excluding MITF).
Source: Ambry Genetics

Cancer Panel (Tumor-standard-paired)

Targeted genes: ABL1, AKT1, AKT2, AKT3, ALK, APC, AR, RSAF, ATM, AURKA, AURKB, AXIN1, AXL, BaP1, BARD1, BCL2, BCL2L1, BCL2L2, BLM, BRAF, BRCA1, BRCA2, BRD2, BRD3, Brd4, BRT, BRIP1, BTK, CBFB, CCND1, CCND2, CCND3, CCNE1,
CD22, CD274, CD79a, CD79b, CDH1, CDK12, CDK4, CDKN1A, CDKN2A, CHEK1, CHEK2, CREBBP, CRKL, DDR2, DDX3X, EGFR, EPHA7, ERBB2, ErbB3, ErbB4, ESR1, EZH2, FAM175A, FAS, FBXW7, FGFR1, FGFR2, FGFR3, FGFR4, FHIT, FLT1, FLT3, FLT4, FRS2, GATA2, GNA11, GNAQ, HDAC1, HDAC4, HDAC7, HGF, HRAS, IDH1, IDH2, IGF1R, JAK1, JAK2, JAK3, KDR, KIT, KRAS, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAPK1, MCL1, MDM2, MET, MLH1, MPL, MRE11A, MS4A1, MSH2, MSH6, mTOR, MUTYH, MYC, MyD88, NBN, NF1, NF2, NFE2L2, NFKBIA, NOTCH1, NOTCH2, NOTCH3, NRAS, NT5C2, NTRK1, PALB2, PDGFRA, PDGFRB, PDK1, PIK3CA, PIK3CB, PIK3CG, PMS2, PTCH1, PTEN, RAC1, RAD51, RAF1, RANBP2, RARE, RB1, RET, rictor, ROS1, RRM1, RUNX1, SDHB, SMO, SOX2, SRC, STAT3, STAT5b, STK11, TERC, TERT, TGFBR2, TP53, TSC1, TSC2, VEGFA, WT1, XPO1

Source: Mendelics

Cancer Predisposition

Determination of cancer predisposition is vital for prevention and early detection of the disease. Early diagnosis of cancer will ensure the immediate start of treatment, which is a key to increasing the survival and recovery. Significant difference between the survival rates of early stage and advanced stage of cancer points out the need for risk assessment of the disease.
Identification of genetic susceptibility to hereditary cancer syndromes enables to implement risk-reduction strategies, estimate familial cancer risk and identify at-risk family members.
Cancer predisposition testing at Asper Biotech includes two next generation sequencing based panels, allowing to analyze multiple genes associated with an increased risk for a wide range of cancers.
Source: Aspen Biotech
Aspen Biotech offers two NGS panels one for 93 genes and one for 109 genes.

Website

CANCER PREDISPOSITION PANEL (Panel 170 PLUS)

Targets over 1700 exons, spanning 94 genes of interests and additional 284 SNPs occurring in 78 different genes - associated with a predisposition towards cancer.

Panel 170 PLUS includes genes associated with both common (e.g., breast cancer, prostate, hematologic malignancies, colorectal, lung, kidney) and rare cancers. In addition, the set includes 284 SNPs found to correlate with cancer through genome-wide association studies (GWAS). Content selection was based on expert interpretation of the scientific literature and other high-quality resources.

Source: DNA Research Center

CANCER PREDISPOSITION PANEL (Panel "For Her")

Targets the whole exons, spanning 48 genes of interests and additional 22 SNPs occurring in 22 different genes - associated with a predisposition towards the most common female cancers.

Panel "For Her" includes genes associated with the cancers, like: breast, colorectal, lung and ovarian cancer. In addition, the set includes 22 SNPs found to correlate with analyzed cancers through genome-wide association studies (GWAS).

Source: DNA Research Center

CANCER PREDISPOSITION PANEL (Panel "For Him")

Targets the whole exons, spanning 54 genes of interests and additional 45 SNPs occurring in 45 different genes - associated with a predisposition towards the most common male cancers.

Panel "For Him" includes genes associatedcancers, like: prostate cancer, colorectal cancer, lung cancer, testicular germ cell tumor. In addition, the set includes 45 SNPs found to correlate with analyzed cancers through genome-wide association studies (GWAS).

Source: DNA Research Center

 

ClearSeq Comprehensive Cancer

This panel targets 151 key disease-associated genes that have been implicated in studies of a wide range of cancers (eg. breast, lung, colorectal, AML) and is designed for deep coverage of target bases for confident variant detection.
Compatible with SureSelect Target Enrichment System.
Source: Agilent

Website

ClearSeq Cancer

The ClearSeq Cancer panel Identify somatic variants in 47 genes targeting known COSMIC hotspots found to be associated with a broad range of cancer types as well as published drug targets.
Compatible with HaloPlexHS and HaloPlex Target Enrichment System.

Source: Agilent

Website

ClearSeq Human DNA Kinome

This panel targets a comprehensive set of kinases and kinase related genes for enrichment, including over 500 kinases and 612 genes. This panel is compatible with post-capture (SureSelectXT) and pre-capture (SureSelectXT2) pooling – (XT2 - pool up to 16 samples per enrichment) available.
Compatible with SureSelect Target Enrichment System.
Source: Agilent

Website

ClearSeq Human RNA Kinome

This panel targets a comprehensive set of kinases and kinase related transcripts for enrichment, including over 500 kinases and 612 genes.
Compatible with SureSelect Target Enrichment System.
Source: Agilent

Website

Comprehensive Cancer Panel

The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of ovarian cancer, this may be associated with a breast/ovarian cancer syndrome such as BRCA1 or BRCA2 or Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM). Thus, the OncogeneDx Comprehensive Cancer panel offers increased clinical sensitivity compared to testing only for the BRCA genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering BRCA testing followed by additional genetic testing).
Tested genes
APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SCG5/GREM1, SMAD4, STK11, TP53, VHL, XRCC2

Source: GeneDx

Focus::CLL™

Focus::CLL™ is a unique NGS panel with 7 actionable markers that have value for prognosis. Based on the Focus::CLL™ result, each patient will receive the most suitable treatment tailored to their unique cancer.
Source. Cancer genetics

Website

FoundationOne

FoundationOne is a fully informative genomic profile that helps physicians make treatment decisions for patients with cancer by identifying the molecular growth drivers of their cancers and helping oncologists match them with relevant targeted therapeutic options.
Source: FoundationOne

Website

GeneRead DNAseq Targeted Panels V2

GeneRead DNAseq Targeted Panels V2 are the simplest tools for analyzing the genetic variants of a focused panel of genes via next-generation sequencing. Each panel consists of multiplex PCR primer sets to amplify exonic regions of a thoroughly researched panel of biologically and clinically relevant and disease-focused genes. GeneRead DNAseq Targeted Panels V2 can also be customized to include genes or other genomic regions tailored to your specific NGS project needs.
Source: Qiagen

Website

Guardant360®

Prior to Guardant360®, there has been no practical way to comprehensively detect resistance and sensitivity mutations outside of a tumor biopsy. Further, biopsies lose their relevance over time due to heterogeneity and evolution of a patient’s cancer in response to treatment. Now with Guardant360, a simple blood draw tests 70 genes including SNVs, CNVs, indels, and rearrangements across more than 150,000 base pairs, aiding in treatment management.
Source: Guardanthealth

Website

Human Cancer Predisposition Panel

The Human Cancer Predisposition GeneRead DNAseq Targeted Panel is a multiplexed PCR-based assay for targeted enrichment of the coding (exonic) regions of the 143 genes commonly mutated in 88 inherited oncogenic diseases.
This panel includes all genes that are known to cause heritable diseases that result in cancer in at least 50% of affected individuals, as well as other genes commonly mutated in cancer. Many of these genes have key mutations annotated that predispose a person to cancer.
Source: Qiagen

High/Moderate Risk Panel

Tested genes APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL
Disorders:
Attenuated Familial Adenomatous Polyposis (AFAP)
Breast Cancer
Colorectal Cancer
Endometrial Cancer
Familial Adenomatous Polyposis (FAP)
Lynch Syndrome
Ovarian Cancer
Pancreatic Cancer
Uterine Cancer

Source: GeneDx

Human Clinically Relevant Tumor Panel

The Human Clinically Relevant Tumor GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the key regions of 24 genes identified by medical groups and peer-reviewed research to be functionally relevant in the treatment of solid tumors. Clinically relevant mutations in these genes have been identified by guidelines and published opinions from groups such as the National Comprehensive Cancer Network (NCCN), College of American Pathologists (CAP), and American Society of Clinical Oncology (ASCO). There are many genes that are somatically mutated during carcinogenesis. However, few of these mutations have confirmed prognostic or diagnostic importance.
Source: Qiagen

Human Comprehensive Cancer Panel

The Human Comprehensive Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 160 genes that are most commonly mutated in cancers with a recognizable oncogenic consequence. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. Cancer research continually identifies novel mutated carcinogenesis-related genes, or novel mutations in known oncogenic genes, elucidating new mechanisms of cancer progression or treatment evasion.
Source: Qiagen

iGene Cancer Panel

Covered Diseases / Risk Areas: 9 hereditary cancer syndromes: breast cancer, ovarian cancer, colorectal cancer, gastric cancer, pancreatic cancer, endometrial cancer, renal cell carcinoma, melanoma, and prostate cancer.
Targeted genes: APC, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, MEN1, MLH1, MSH2, MSH6, MUTYH, NTRK1, PTCH, PMS2, PTEN, RET, SMAD4, STK11, TP53, and VHL
Source: ApolloGen

Inherited Cancer Panel

Our next-generation sequencing test is designed to detect mutations in the coding region of 52 genes associated with cancer, or increasing the risk for cancer onset. Our microarray test is designed to identify single exon deletions and duplications in the same 52 cancer-associated genes. Combining deletion/duplication data analyzed by microarray with next generation sequencing data will allow KDL to improve diagnostic yield and deliver more comprehensive results. This set of genes includes genes associated with: breast/ovarian/endometrial cancers; GI cancers, such as Lynch syndrome; renal and pancreatic cancers; melanoma; endocrine tumors, including multiple endrocrine neoplasia; and syndromes associated with single gene defects, such as Birt-Hogg-Dube, Bloom, Gorlin, Li-Fraumeni and Von-Hippel-Lindau, among others.
Source: Knight Diangostics Laboratories

Invitae Multi-Cancer Panel

The Invitae Multi-Cancer Panel analyzes 79 genes that are associated with hereditary cancers across eight major organ systems.
The Invitae Multi-Cancer Panel is designed to maximize diagnostic yield for patients with a personal or family history of mixed cancers affecting these organ systems. The genes selected for this panel include the aggregate of primary genes from each of the individual cancer panels to provide clinically relevant information pertaining to cancers across all the organ systems.
Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.
Source: Invitae

Ion AmpliSeq™ RNA Cancer Panel

The Ion AmpliSeq™ RNA Cancer Panel is a screening tool designed against 50 oncogenes/tumor suppressor genes found in the COSMIC database. This panel has been developed as an RNA complement to the DNA-focused Ion AmpliSeq™ Cancer Hotspot Panel v2. The panel is a single pool of primers representing 50 oncogenes and tumor suppressor genes with coverage of KRAS, BRAF, and EGFR genes.
Source: Thermo Fisher

Website

Ion AmpliSeq™ Comprehensive Cancer Panel

The Ion AmpliSeq™ Comprehensive Cancer Panel provides highly multiplexed target selection of genes implicated in cancer research. Encompassing over 50% of the Wellcome Trust Sanger Institute Cancer Gene Census, this is the most comprehensive cancer gene panel available. With all-exon coverage of 409 genes, the Ion AmpliSeq™ Comprehensive Cancer Panel delivers fast, FFPE-compatible, target selection for a broad survey of key genes for semiconductor sequencing.
Source: Thermo Fisher

Website

Multiplicom’s Tumor Hotspot MASTR Plus assay

Multiplicom’s Tumor Hotspot MASTR Plus assay is provided as a ready-to-use kit that offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 252 amplicons (121-254 bp) in 4 PCR reactions are included. The assay builds on Multiplicom’s expertise of multiplex assays, and is further optimized to detect mutations using DNA derived from FFPE tumor samples, but is also compatible with FFT samples or detection of mutations in germline DNA.
Source Multiplicom

Website

NovoCR™

This test, tested and validated on over 400 patient samples, is available for patient diagnosis in China, provides an advanced cancer susceptibility gene screening solution for people with high risk of cancer. By analyzing germ line mutations in leukocytes or oral mucosa cells, NovoCRTM helps doctors diagnose cancer at the molecular level. It also offers risk assessment for relatives of the cancer patient, which helps cancer prevention through pre-emptive medical care. The Professional Version covers 106 genes in 16 types of cancer. The test, which offers extensive exon coverage, uses international databases such as HGMD, BIC, LOVD InSiGHT, and ClinVar and a Chinese database developed in collaboration with national experts.

Source: Novogene

NovoPM™ Cancer Panels

The NovoPM test provides a solution for solid cancer assessment and aids in developing a personalized cancer therapy strategy. The test, run on the Illumina HiSeq platform, identifies relevant cancer-related genomic alterations in individual samples. There is also a non-invasive NovoPM test which analyzes circulating tumor DNA (ctDNA) alterations in plasma. Each has two versions, “Standard” and “Professional”. The Standard Version contains 40 genes. The Professional Version sequences the coding region of 483 cancer-related genes and introns from 19 genes. This covers most major cancers (Lung, Colon, Esophageal, Gastric, Breast, etc.), examining selected genes based on National Comprehensive Cancer Network (NCCN) guidelines. The various versions of the NovoPM test have been validated on a total of 1,000 patient samples. In a research setting these assays can be used to help scientists develop potential therapeutics.

Source: Novogene

OncoDEEP DX

OncoDEEP DX focuses on 65 genes which, of course, have been associated to cancer but also have been chosen by pharmaceutical companies as target to develop drugs active upon the disease. If a variant in one of these genes is discovered, it should provide a good target and treatment opportunity which should be more effective. The first version V1 of OncoDEEP DX is based on AmpliSeq Cancer Hotspot Panel while the version V2 questions extra genes (e.g. the minimal list of genes to be sequenced for diagnostic purposes recommended by Institut National du Cancer).
Source: Oncoshare

Website

OncoGeneDx Custom Panel

Tested genes: APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CHEK2, EPCAM, FANCC, FH, FLCN, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RET, SCG5/GREM1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2

Disorders:
Attenuated Familial Adenomatous Polyposis (AFAP)
Breast Cancer
Colorectal Cancer
Endometrial Cancer
Familial Adenomatous Polyposis (FAP)
Lynch Syndrome
Ovarian Cancer
Pancreatic Cancer
Paraganglioma
Pheochromocytoma
Renal Cancer
Uterine Cancer

Source: GeneDx

OncoRisk Plus

OncoRisk Plus (NGS panel for 89 genes)
AIP, ALK, APC, ATM, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS2, PRF1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SBDS, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC
Source: CGC Genetics

OncoTRACE

OncoTRACE analysis uses next generation sequencing at ultra high coverage and consists in three steps: OncoTRACE enables the analysis of the tumor of the patient using 411-genes. OncoDEEP Clinical panel enables identification of variants specific to the patient. OncoTRACE enables routine semi-quantitative analysis of personalized variants along with hotspot variants related to targeted therapies and treatment resistance.
Source: OncoDNA

Website

Ovation® Cancer Panel Target Enrichment Systems

Ovation® Cancer Panel Target Enrichment Systems The Ovation Cancer Panel 2.0 Target Enrichment System enables target enrichment studies with 509 cancer genes using NuGEN's proprietary Single Primer Enrichment Technology and is a complete solution for generation of enriched, multiplexed libraries from low-input amounts of genomic DNA.
Source: nugene

Website

Ovation® Cancer Panel FFPE Target Enrichment System

The Ovation Cancer Panel FFPE Target Enrichment System is a pre-defined cancer panel for FFPE DNA and targets 344 cancer-related genes published in Nature Biotechnology 29, pp. 1024-1027 (2011). The product product can be used to interrogate both SNPs and CNVs in the same sequencing run.
Source: nugene

Website

Pan Cancer Somatic Panel

The Pan Cancer Somatic Panel was designed for use across multiple cancers. The initial panel targets 52 genes.

Website

Quantidex™ Pan Cancer Kit*

The Quantidex™ Pan Cancer Kit* is a next-generation sequencing (NGS) based workflow that incorporates both a multiplexed, gene specific PCR panel as well as supporting workflow elements, including the analytical and reporting features within one comprehensive kit. The kit, interrogates 46 gene regions (amplicons) within 21 genes, deemed to be of high clinical significance and potentially actionable* content in various human cancers. The scope of variants reported by the panel include >1,600 known COSMIC variants, including single nucleotide variants (SNVs), insertions-deletions (indels), and structural rearrangements targeted by the panel. A comprehensive NGS workflow, the kit includes all necessary reagents for pre-analytical DNA QC/quantification, gene specific PCR, library purification and quantification for sequencing with the Illumina chemistry.
Source: Asuragen

Website

Somatic Tumor Panel

The CeGaT Somatic Tumor Panel comprises 649 genes with known mutations that can have an impact on tumor development. In addition to sequencing exonic regions of these 649 genes we analyze selected translocations in 28 genes. For the detection of somatic mutations a normal tissue sample (usually blood) is needed in addition to a sample of the tumor. The identification of somatic mutations provides a more detailed diagnosis of tumors and can support treatment decision.
Source: CeGaT

SYMGENE targeted gene panel

The new SYMGENE targeted gene panel is designed to give pathologists and oncologists a competitive edge by offering clients competitively priced next- generation sequencing that isolates the 68 most actionable genes, for faster, more accurate, and more relevant results.
Source: Symbiodx

Website

SOMATIC 1 MASTR v2

The SOMATIC 1 MASTR v2 is a molecular assay (research use only) for the identification of all mutations in the NRAS,KRAS and BRAF genes in individuals with various types of cancer. Multiplicom’s SOMATIC 1 MASTR v2 assay is provided as a ready-to-use kit that offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 30 amplicons (168-255 bp) in three PCR reactions are included, for complete coverage of all coding sequences.
Source: multiplicom

Website

Accel-Amplicon Comprehensive TP53 Panel

The Accel-Amplicon Comprehensive TP53 Panel offers comprehensive coverage of all coding regions of the TP53 gene, using a 21-amplicon design to generate multiplex libraries compatible with Illumina sequencing platforms. This product is a complete kit that includes all elements necessary for generating ready-to-sequence libraries, including primer pairs and indexed sequencing adapters.
Source: Swift biosciences

Website

ThunderBolts™ Cancer Panel

The ThunderBolts™ Cancer Panel is a comprehensive next-generation sequencing (NGS) panel for profiling important cancer mutations. The ThunderBolts Cancer Panel enables researchers to rapidly detect and cost-effectively analyze mutations on precious FFPE (Formalin-Fixed Paraffin-Embedded), tissue, and Liquid Biopsy samples (circulating tumor DNA or ctDNA). The ThunderBolts Cancer Panel uses single molecule PCR to target 50 known cancer genes including tumor suppressors, mutation hotspots and drug resistance markers. The panel also features industry breakthroughs in sequence coverage and uniformity, allelic sensitivity, sample flexibility, workflow, and cost.
Source: Raindance technologies

Website

TruSight Cancer

The TruSight Cancer includes genes associated with both common (e.g., breast, colorectal) and rare cancers. In addition, the set includes 284 SNPs found to correlate with cancer through genome-wide association studies (GWAS). Content selection was based on expert curation of the scientific literature and other high-quality resources.
Source: Illumina

Website

xGen® Pan-Cancer Panel

The xGen® Pan-Cancer Panel v1.5 consists of 7816 individually synthesized and quality controlled xGen Lockdown® Probes that allow enrichment of 127 significantly mutated genes implicated across 12 tumor tissue types to enable deeper coverage during sequencing.

Source: IDT


Brain / CNS Cancer

Brain, CNS, and PNS Cancer: Sequencing Panel

Approximately 5% of primary brain cancers have known hereditary factors. Specifically, Li-Fraumeni syndrome, p53 defects, neurofibromatosis, tuberous sclerosis, von Hippel-Lindau disease, Turcot's syndrome, and familial polyposis increase the risk of brain tumors.
Targeted genes: (16) ALK, APC, ATM, MEN1, MLH1, MSH2, MSH6, NBN, NF2, PALB2, PHOX2B, PMS2, PTCH1, SUFU, TP53, VHL
Source: Emory Genetics Laboratory

Central Nervous System Hereditary Cancer Panel

Sequencing and Deletion/Duplication, 15 Genes
Source: Arup Laboratories

CNS Tumor Gene Set

Targeted genes: AKT1, ATRX, BRAF, CDKN2A, CIC, CTNNB1, EGFR, FUBP1, IDH1, IDH2, KRAS, MYC, NF1, NOTCH1, PDGFRA, PTCH1, PTEN, SHH, SMO, SUFU, TERT, TP53, WNT1 and WT1
Source: WUSTL

Invitae Nervous System/Brain Cancer Panel

The Invitae Nervous System/Brain Cancer Panel analyzes up to 39 genes that are associated with an increased lifetime risk of developing cancers of the central and peripheral nervous systems. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive hereditary nervous system cancers panel. Many of these genes are also associated with an increased risk of other cancer types.
In addition to the primary panel, clinicians can also choose to include seven genes that have limited evidence of association with cancers of the central and peripheral nervous systems.
Source: Invitae


Breast (BRCA) and Ovarian Cancer

BRCA1/BRCA2 panel (NGS Panel)

Tested Genes: BRCA1/BRCA2

Source: Centogene

BRCAvantage Plus™

BRCAvantage Plus™ BRCA1, BRCA2, TP53, PTEN, CDH1, STK11, PALB2. Looking beyond BRCA 1, BRCA2 for hereditary breast cancer risk. BRCAvantage Plus™ expanded testing for significant breast cancer susceptibility genes.
Source: Quest Diagnostics

Website

BRCA MASTR™ Dx

The BRCA MASTR™ Dx is a molecular diagnostic assay for the identification of mutations in the coding regions of theBRCA1 and BRCA2 genes in individuals with increased risk for breast, ovarian and/or related cancers. Multiplicom’s BRCA MASTR™ Dx is ready to use and offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 93 amplicons (289-430 bp) are included, for complete exon coverage of all coding sequences of the BRCA1 and BRCA2 genes.
Source: multiplicom

Website

BRCAPLUS

BRCAplus is a next generation sequencing panel of 6 genes associated with breast cancer (BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53). These six genes are associated with five hereditary cancer syndromes (hereditary breast and ovarian cancer or HBOC, hereditary diffuse gastric cancer, hereditary breast and pancreatic cancer, Cowden syndrome, and Li-Fraumeni syndrome) – all of which have published management guidelines.
Source: Ambry Genetics

Breast Cancer

Multi Gene Panel (37 Genes)
Targeted genes: ATM BLM BRCA1 BRCA2 BRIP1 BUB1B CDH1 CEP57 CHEK2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FH MLH1 MSH2 MSH6 NBN NF1 PALB2 PMS2 PTEN RAD51C RAD51D RECQL4 SDHB SDHC SDHD SLX4 STK11 TP53
Source: Medical Genetics Center

Breast Cancer and Ovarian Hereditary

Targeted genes: BRCA1, BRCA2, TP53, PTEN, ATM, BLM, PALB2, RAD51D, RAD51C, BRIP1, STK11, BARD1, PIK3CA, XRCC2, NBN, FANCC, SDHB, CHEK2, RECQL, CDH1, AKT1

Source: Mendelics

Breast Cancer High/Moderate Risk Panel

Tested genes ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53

Source: GeneDx

Breast Cancer High Risk Panel

Identify the genetic basis of breast cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
Tested genes BRCA1, BRCA2, CDH1, PTEN, STK11, TP53

Source: GeneDx

Breast Cancer High Risk Panel and PALB2

Identify the genetic basis of breast cancer for individuals who have features and/or a family history consistent
Tested genes BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53

Source: GeneDx

Breast cancer (NGS panel for 10 genes)

Breast cancer (NGS panel for 10 genes)
ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, RAD51C, RAD51D, TP53
Source: CGC Genetics

Breast cancer (NGS panel for 18 genes)

Breast cancer (NGS panel for 18 genes)
ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53
Source: CGC Genetics

Breast Cancer Panel

Germline mutations in highly penetrable genes, mainly BRCA1 and BRCA2, have been found to be the direct causes of elevated risks of breast and ovarian cancers in women[4, 5].
This NGS (Next-Generation Sequencing) panel sequences 19 genes implicated in breast cancer, including BRCA1, BRCA2. Other genes included in the panel are TP53, PTEN, CDH1, STK11, ATM, AR, BARD1, BRIP1, CASP8, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, RAD51C, and TGFB1, which also cause an increased risk of both types of cancer.
Source: ApolloGen

Breast and Ovarian Cancer

Breast and ovarian cancers are most strongly associated with mutations of the BRCA1 and BRCA2 genes. Among women who have a clinically important BRCA gene mutation, the lifetime risk of developing breast and/or ovarian cancer can reach 80%. Cancer-predisposing mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant manner. The prognosis for breast cancer survival depends upon the stage at which breast cancer is diagnosed.
Source: Asper Biotech
Asper Biotech offers two panels for BRCA1 & BRCA2 and for APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FGFR2, KRAS, MAP3K1, MEN1, MLH1, MLH3, MSH2, MSH3, MSH6, MRE11A, MUTYH, NBN, PALB2, PMS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, STK11, TGFB1, TP53 sequencing.

Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel

The EGL Breast and Ovarian Cancer Panel includes genes involved in hereditary cancer predisposition syndromes that have an increased risk for breast and/or ovarian cancer. They include hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2), hereditary diffuse gastric cancer syndrome (CDH1), Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), Peutz-Jeghers syndrome (STK11), ataxia telangiectasia (ATM), Lynch syndrome (MLH1, MSH2, MSH6, PMS2, and EPCAM), and MUTYH-associated polyposis syndrome (MUTYH).
Targeted Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53, XRCC2
Source: Emory Genetics Laboratory

Breast and Ovarian Hereditary Cancer Panel

Genes tested by Sequencing: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2 common mutations, MEN1,MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

Genes tested by Deletion/Duplication: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2 common mutations, EPCAM deletions only, MEN1,MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
Source: Arup Laboratories

BREASTNEXT

Ambry utilizes next generation sequencing to offer a comprehensive hereditary breast cancer panel. Genes on this panel include ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, and TP53. Full gene sequencing and gross deletion/duplication analysis is performed for all 17 genes. Specific Site Analysis is available for individual gene mutations identified in a family.
Source: Ambry Genetics

BREASTON-Extended and OVARIGEN

Familial and hereditary breast and ovarian cancer tests available at PentaCore Laboratory!
As for prevention, it is really important to identify those persons who are currently not ill but have a family record of multiple breast and ovarian cancer cases. These persons may carry genetic variations that could cause these diseases. Currently, 20-30% of all the diagnosed breast cancer cases could be the consequence of hereditary genetic variations (mutations). In the background of these cases, there are mutations with big penetration capacity, most commonly mutations associated with the BRCA1 and BRCA2 genes.
The genes analyzed include: BRCA1, BRCA2, ATM, BARD1, BRIP1, CDH1, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, RAD51, STK11, TP53, KRAS.

Source: Pentacorelab

Breast Ovarian Cancer NGS Panel

Targeted Genes: APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, CTNNB1, EPCAM, FANCC, HOXB13, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PALLD, PMS2, PTEN, RAD50, RAD51, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL, XRCC2, XRCC3
Source: Fulgent Diagnostics

Breast/Ovarian Cancer Panel

The OncogeneDx Breast and Ovarian Cancer panel includes analysis of the BRCA1 and BRCA2 genes as well as 19 other genes affecting breast and/or ovarian cancer risk.Tested genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2

Source: GeneDx

Breast ovarian cancer panel (NGS Panel)

Tested genes: CDH1, PTEN, STK11, TP53

Source: Centogene

Breast ovarian cancer panel PLUS (NGS Panel)

Tested genes: ATM, BARD1, BRIP1, CHEK2, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS1, PMS2, RAD50, RAD51C, RAD51D, XRCC2

Source: Centogene

BreastSeq

BreastSeq is an ultrasequencing panel (NGS) which analyzes simultaneously 19 genes and 76 SNPs associated with susceptibility to hereditary breast cancer.
Some of these genes are also associated with an increased risk of other cancers such as: PALB2 with pancreatic cancer, RAD50 with ovarian cancer or TP53 with different sarcomas. In addition, we have included the detection of 76 SNPs (Single Nucleotide Polymorphism) associated with breast cancer in recent studies of GWAS (Genome-wide association study).

Source: ACgen

BreastTrue™ High Risk Panel

BreastTrue™ High Risk Panel is a next-generation sequencing test with deletion/duplication analysis to detect mutations in seven high-risk breast cancer susceptibility genes, including BRCA1, BRCA2 and PALB2.
Targeted genes:
BRCA1
BRCA2
CDH1
PALB2
PTEN
STK11
TP53
Source: Pathway Genomics

CentoBreast (hereditary breast cancer) panel

Tested genes BRCA1, BRCA2, TP53, PTEN, STK11, CDH1, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C

Source: Centogene

HEREDITARY BREAST AND OVARIAN CANCER BRCA1/2 SEQUENCING PANEL

The majority of breast and ovarian cancers occur sporadically. However, approximately 5-10% of breast, and 10-15% of ovarian cancer cases are due to mutations in specific genes, particularly BRCA1 and BRCA2, that significantly increase an individual's risk of developing these cancers (Marchina et al. 2010). In addition, HBOC syndrome may also be the result of of lower penetrance mutations in other genes, which confer a moderate risk (Berliner et al. 2013).
This is a predictive test and it only provides information regarding the likelihood of breast and/or ovarian cancer.
Source: Prevention Genetics

This kit sequences the BRCA1 and BRCA2 genes

HEREDITARY BREAST AND OVARIAN CANCER SYNDROME - HBOC EXPANDED NEXTGEN SEQUENCING (NGS) AND DELETION/DUPLICATION PANEL

This HBOC High Risk NGS panel analyzes 20 genes, in which pathogenic variants have been associated with low to moderate to high risks of developing hereditary breast and/or ovarian cancer.
Source: Prevention Genetics

Hereditary breast–ovarian cancer syndrome panel

Thanks to massive sequencing technology and high-resolution genomic platforms, Bioarray offers a NGS panel, with which it is possible to detect mutations in the BRCA1 and BRCA2 genes, allowing early detection of hereditary cancer families, in a simple blood test.

Source: BA Bioarray

HBOC High Risk NGS panel

This HBOC High Risk NGS panel analyzes 8 genes, where pathogenic variants in these genes have been associated with a high risk of developing hereditary breast and/or ovarian cancer.
Source: Prevention Genetics

Human Breast Cancer GeneRead DNAseq Targeted Panel

The Human Breast Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 44 genes most commonly mutated in human breast cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis.
Source: Qiagen

Invitae Breast Cancer Guidelines-Based Panel

The Invitae Breast Cancer Guidelines-Based Panel analyzes nine well-established genes that are associated with hereditary breast cancer and an increased risk of other cancers. This panel differs from the Invitae Breast Cancer High-Risk Panel by the addition of two genes: ATM and CHEK2. The addition of ATM and CHEK2 completes the list of genes for which the National Comprehensive Cancer Network (NCCN) currently recommends enhanced breast cancer screening (i.e., breast MRI) and possible preventive measures.
Source: Invitae

Invitae Breast and Gyn Cancers Guidelines-Based Panel

The Invitae Breast and Gyn Cancers Guidelines-Based Panel analyzes 14 genes that are associated with a significantly increased lifetime risk of hereditary breast, ovarian, uterine, fallopian tube, and peritoneal cancer. Some genes on this panel are also associated with an increased risk of other cancer types. All 14 genes on this panel have published management guidelines.
Source: Invitae

Invitae Breast and Gyn Cancers Panel

The Invitae Breast and Gyn Cancers Panel analyzes genes that are associated with hereditary breast, ovarian, and uterine cancers. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for women’s breast and gynecologic cancers.
The primary panel includes 23 genes that are associated with hereditary breast, ovarian, and uterine cancers. In addition to the primary panel, clinicians can also choose to include 12 genes that have limited evidence of association with these cancer types. At this time, the association of these 12 genes with these cancers remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future.
Source: Invitae

Invitae Breast Cancer High-Risk Panel

The Invitae Breast Cancer High-Risk Panel includes seven well-established genes that are associated with a significantly increased risk of developing breast cancer. All genes on this panel have published medical management guidelines and are associated with defined hereditary cancer syndromes.
Source: Invitae

Pathway Genomics’ BRCATrueTM

Pathway Genomics’ BRCATrueTM is a next-generation sequencing test that searches for mutations in BRCA1 and BRCA2 genes. Having mutations in either the BRCA1 or the BRCA2 gene significantly increases a patient’s risk for breast, ovarian and other types of cancer2.
Source: Pathway

Website

OvaNext

OvaNext is a next generation sequencing (NGS) panel that simultaneously analyzes 24 genes associated with increased risk for breast, ovarian, and/or uterine cancers.
Source: Ambry Genetics

Website


Colorectal cancer

Colon Cancer NGS Panel

Tageted Genes: (21) APC, AXIN2, BMPR1A, BUB1B, CDH1, CDKN2A, CHEK2, EPCAM, EXO1, FLCN, GALNT12, MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11, TP53
Source: Fulgent Diagnostics

Colon cancer non-polyposis panel

Tested genes MSH2, MLH1, MSH6, PMS2, EPCAM

Source: Centogene

Colon cancer with polyps panel

Tested genes APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11

Source: Centogene

COLONEXT

Ambry utilizes NGS to offer a comprehensive panel for hereditary colorectal cancer. Genes on this panel include: APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, and TP53. Full gene sequencing is performed for 15 of the genes (excluding EPCAM and GREM1). Gross deletion/duplication analysis is performed for all 17 genes.
Source: Ambry Genetics

ColonSeq

ColonSeq is an ultrasequencing panel (NGS) which analyzes simultaneously 24 genes associated with susceptibility to different types of hereditary colorectal cancer.
ColonSeq is an analysis tool to analyze the main genes associated with colon cancer syndromes such as Lynch syndrome, familial adenomatous polyposis, MUTYH -associated polyposis, disorders related to PTEN, Li-Fraumeni syndrome, juvenile polyposis, cancer or diffuse gastric Peutz - Jeghers syndrome.

Source: ACgen

ColoTrue™

ColoTrue™ is a 14-gene hereditary cancer panel for individuals and families with features suggestive of hereditary colorectal cancer. This panel includes full sequencing and deletion/duplication analysis of 13 genes as well as deletion/duplication analysis of the EPCAM gene. In addition, this test also offers site-specific analysis of the MDM2–SNP309 allele. A pathogenic variant in any of these genes warrants consideration of increased colorectal cancer surveillance.
Source: Pathway

Website

Colorectal Cancer

Multi Gene Panel (16 Genes)
Targeted genes: APC BMPR1A BUB1B CHEK2 MET MLH1 MSH2 MSH6 MUTYH NBN PMS1 PMS2 PTEN SMAD4 STK11 TP53
Source: Medical Genetics Center

Colorectal Cancer Hereditary nonpolyposis (HNPCC)

Targeted genes MLH1, MSH2, MSH6, PMS2, EPCAM, TP53

Source: Mendelics

Colorectal Cancer NextGen Sequencing Panel

The Colorectal Cancer NextGen Sequencing Panel analyzes 17 genes that have been associated with hereditary colorectal cancers.
This test is suitable for individuals with a clinical history of hereditary colorectal cancers. This test especially aids in a differential diagnosis of similar phenotypes, rules out particular syndromes, and provides the analysis of multiple genes simultaneously. Individuals with multiple colorectal tumors, multifocal, recurrent, family history, and early onset (e.g. <50 years) tumors should be assessed with this panel.
Source: Prevention Genetics

Colorectal Cancer Panel

The OncogeneDx Colorectal Cancer panel includes analysis of FAP and Lynch syndrome associated genes as well as 12 other genes affecting colorectal cancer risk.
Tested genes: APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SCG5/GREM1, SMAD4, STK11, TP53

Source: GeneDx

Gastrointestinal and Colorectal Cancer: Sequencing Panel

The Gastrointestinal and Colorectal Cancer Panel also includes testing for the well-described hereditary cancer predisposition syndromes; Lynch syndrome, familial adenomatous polyposis (FAP), and MYH-associated polyposis (MAP). Lynch syndrome, FAP, and MutY homolog MAP are three major known types of inherited colorectal cancer, which account for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, PMS2, and EPCAM, and is inherited in an autosomal dominant manner.
Targeted genes: APC, ATM, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, SMAD4, STK11, TP53
Source: Emory Genetics Laboratory

Hereditary Nonpolyposis Colon Cancer / Lynch Syndrome

Multi Gene Panel (4 Genes)
Targeted genes: MLH1 MSH2 MSH6 PMS2
Source: Medical Genetics Center

Hereditary Colorectal Cancer and Gastric

Targeted genes: APC, MUTYH, MSH2, MSH6, MLH1, PMS2, STK11, EPCAM, XRCC2, TP53, CDH1

Source: Mendelics

High Risk Colorectal Cancer: Deletion/Duplication Panel

Emory Genetics Laboratory (EGL) High Risk Colorectal Cancer Panel include the well-described hereditary cancer predisposition syndromes; Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis. Lynch syndrome, familial adenomatous polyposis, and MutY homolog (MYH)-associated polyposis are three major known types of inherited colorectal cancer, which accounts for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, PMS2, and EPCAM, and is inherited in an autosomal dominant manner.
Targeted genes: APC, ATM, BLM, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, STK11, TP53
Source: Emory Genetics Laboratory

HNPCC MASTR Plus

The HNPCC MASTR Plus is a molecular assay (research use only) for the identification of all mutations and CNVs in 4 genes (MLH1, MSH2, MSH6, and PMS2) and 3’ UTR of EPCAM associated with hereditary non-polyposis colorectal cancer (HNPCC). Multiplicom’s HNPCC MASTR Plus assay is provided as a ready-to-use kit that offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 84 amplicons (277-443 bp) in 5 PCR reactions are included, for complete coverage of all coding sequences and selected intronic regions.
The assay is compatible with all current Massively Parallel Sequencing (MPS) systems, providing the flexibility to choose your preferred method.
Source: multiplicom

Website

Human Colorectal Cancer Panel

The Human Colorectal Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 38 genes most commonly mutated in human colorectal cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis.

Source: Qiagen

Invitae Colorectal Cancer Guidelines-Based Panel

The Invitae Colon Cancer Guidelines Based Panel analyzes 12 genes, variants in which cause significantly elevated risk of hereditary colorectal cancer. These genes were curated based on published best practice guidelines for evaluation of hereditary colorectal cancer (CRC) risk. The genes included in this panel are medically actionable and have published, evidence-based management and risk-reduction options.
Source: Invitae

Invitae Colorectal Cancer Panel

The Invitae Colorectal Cancer Panel analyzes genes that are associated with a hereditary predisposition to colorectal cancer. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for colorectal cancer.
The primary panel includes 18 genes that are associated with with hereditary colorectal cancer. In addition to the primary panel, clinicians can also choose to include five genes that have limited evidence of association with colorectal cancer. At this time, their association with colorectal cancer remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future.
Source: Invitae

Invitae Lynch Syndrome Panel

This test analyzes 5 genes associated with a hereditary predisposition to Lynch syndrome (also known as hereditary non-polyposis colorectal cancer [HNPCC]). This tumor predisposition syndrome is characterized by an increased risk of developing colorectal, ovarian, uterine, and other cancers.
Source: Invitae

Lynch/Colorectal High Risk Panel

Tested genes APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2
Disorders
Attenuated Familial Adenomatous Polyposis (AFAP)
Colorectal Cancer
Familial Adenomatous Polyposis (FAP)
Lynch Syndrome

Source: GeneDx

Lynch Syndrome

Targeted Genes: MLH1, MSH2, MSH6, PMS2
Source: Fulgent Diagnostics

Lynch syndrome

Bioarray offers a genes sequencing panel associated with Lynch syndrome.
Tested genes: MLH1 MSH2 MSH6 PMS2 EPCAM

Source: BA Bioarray

Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer – HNPCC

Lynch syndrome, also called hereditary non-polyposis colon cancer (HNPCC), is characterized by an increased risk of colon cancer and other cancers (e.g., of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin). Lynch syndrome is inherited in an autosomal dominant manner and it is associated with germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Mutation carriers have a lifetime risk of up to 80% for colorectal cancer, 20-60% risk of endometrial cancer, as well as other tumors. Lynch syndrome is associated with early onset of cancer, the average age of diagnosis is 45 years.
Source: Aspen Biotech
Sequenced genes: MLH1, MSH2, MSH6

Website

LYNCH SYNDROME NEXTGEN SEQUENCING (NGS) AND DELETION/DUPLICATION PANEL

The Lynch Syndrome NextGen Sequencing Panel analyzes 5 genes that have been associated with Lynch syndrome.
Lynch syndrome is an autosomal dominant disease mainly caused by germline mutations in one of four described MMR genes: MLH1, MSH2, MSH6, and PMS2 (Peltomäki and Vasen 2004; Kohlmann and Gruber. 2012). Mutations in the MLH1 and MSH2 genes account for approximately 80-90% of all Lynch syndrome patients and most frequently occur in families meeting the stringent Amsterdam I criteria. Mutations in the MSH6 and PMS2 genes account for most of the remaining Lynch patients and are often found in families with atypical HNPCC symptoms, such extracolonic carcinomas; and have also been found to have a low rate of MSI. Mutations in another gene, EPCAM, which encodes a calcium-independent cell adhesion molecule and not a mismatch repair protein, are also involved in Lynch syndrome.
Source: Prevention Genetics

LynchSyndromeTrue

LynchSyndromeTrue is a hereditary cancer panel designed for individuals suspected to be at-risk for Lynch (hereditary non-polyposis colon cancer or HNPCC) syndrome. Testing includes full sequencing of MLH1, MSH2, MSH6, and PMS2. Testing also includes deletion/duplication analysis for these four genes as well as the EPCAM gene.
Source: Pathway

Website

Polyposis Coli

Multi Gene Panel (7 Genes)
Targeted genes: APC BMPR1A CHEK2 MUTYH PTEN SMAD4 STK11
Source: Medical Genetics Center

Sentosa SQ CRC Panel

The Sentosa SQ CRC Panel is a Next-Generation Sequencing (NGS)-based in vitrodiagnostic test that simultaneously detects hot spot mutations in 11 genes from formalin-fixed paraffin-embedded (FFPE) samples that have previously demonstrated clinical relevance in the management of patients with colorectal cancer (CRC). This panel is intended to be used on the Sentosa SX101 with theSentosa SX FFPE II gDNA Kit in conjunction with the Sentosa ST401 andSentosa SQ301 instruments.
Source: Vela Diagnostics

Website


EGFR

EGFR MASTR

The EGFR MASTR assay amplifies exons 18 to 21 of the EGFR gene and consists of 4 amplicons in a single multiplex PCR reaction. Amplicon sizes range from 100 bp to 180 bp enabling mutation detection in FFPE derived DNA.
The Epidermal Growth Factor Receptor (EGFR) is a cellular transmembrane receptor found on the cell surface of tumour cells. It is activated by the binding of the EGF or other growth factors which finally stimulates cell proliferation. Mutations in the tyrosine kinase domain, comprised by exons 18-21, of the EGFR gene increase the activity of the intracellular signaling cascade resulting in uncontrolled proliferation of the tumor cells, such as non-small cell lung cancer (NSCLC). Identifying the TK domain mutations is applied in guiding targetted therapy strategies with tyrosine kinase inhibitors.
Source: multiplicom

Website


Endocrine Cancer (see also Thyroid Cancer) 

Hereditary Endocrine Cancer

Targeted genes RET, MEN1, NTRK1

Source: Mendelics

Endocrine Hereditary Cancer Panel

Sequencing and Deletion/Duplication, 13 Genes
Source: Arup Laboratories

Multiple endocrine neoplasias /paraganglioma/pheochromocytoma panel

tested genes CDKN1B, MAX, MEN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

Source: Centogene

Pheochromozytoma-Paraganglioma syndrome

Multi Gene Panel (11 Genes)
Targeted genes: MAX MEN1 NF1 PRKAR1A RET SDHAF2 SDHB SDHC SDHD TMEM127 VHL
Source: Medical Genetics Center


Gastric Cancer, Gastrointestinal Stromal Tumors (GIST) and Polyposis

FAMILIAL GASTROINTESTINAL STROMAL TUMORS (GISTS) VIA THE PDGFRA GENE

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal tumors found in the gastrointestinal tract. In most cases, GISTs spontaneously arise due to somatic mutations in the KIT gene, and less frequently in the PDGFRA gene.Individuals with PDGFRA mutations show clinical manifestations similar to patients with KIT germline mutations, including dysphagia, hyperpigmentation and urticaria pigmentosa; however patients with germline PDGFRA mutations have distinct clinical features, such as large hands, lipomas, intestinal neurofibromatosis, and small intestine fibrous tumors.
Source: Prevention Genetics

Gastric Cancer

Multi Gene Panel (10 Genes)
Targeted genes: BMPR1A CDH1 CHEK2 MLH1 MSH2 MSH6 PMS1 PMS2 STK11 TP53
Source: Medical Genetics Center

Gastric cancer panel, targeted

Tested genes BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, SMAD4

Source: Centogene

Gastrointestinal Hereditary Cancer Panel

Confirm a diagnosis of hereditary gastrointestinal (GI) cancer in individuals with a personal or family history of GI cancer and/or polyposis.
Sequencing and Deletion/Duplication, 15 Genes

Source: ARUP Laboratories

Gastrointestinal Stromal Tumor

Multi Gene Panel (11 Genes)
Targeted genes: KIT MAX MEN1 NF1 PRKAR1A SDHAF2 SDHB SDHC SDHD SMARCB1 TMEM127
Source: Medical Genetics Center

GIST MASTR assay

The GIST MASTR assay amplifies exons 9, 11, 13, 14, 15, 16, 17 of the KIT gene and exons 8, 10, 12, 14, 18 of the PDGFRA gene. The assay contains 17 amplicons (120-220 bp), which are amplified in 2 multiplex PCR reactions.
Source: multiplicom

Website

Hereditary Gastric Cancer Panel

Our Hereditary Gastric Cancer Panel includes sequencing and deletion/duplication analysis of the following 20 genes: CDH1, MSH2, STK11, CTNNA1, MSH6, PTEN, KIT, PMS2, SDHB, PDGFRA, EPCAM, SDHC, BRCA1, APC, TP53, BRCA2, SMAD4, MAP3K6, MLH1, BMPR1A.

Source: University of Chicaco Genetic Services

Human Gastric Cancer Panel

The Human Gastric Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 29 genes most commonly mutated in human gastric cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. Gastric cancer, or stomach cancer, originates in any part of the stomach, but can spread to other organs such as the esophagus, liver, lungs, and lymph nodes. Gastric cancer is not as well-defined molecularly as other cancer types, and the key driver mutations have not yet been identified. However, many genes commonly mutated in gastric cancer have been identified, such as PIK3CA. Therefore, a panel of genes commonly mutated in gastric cancer is an efficient way to research a tumor sample’s potential carcinogenic mechanisms.
Source: Qiagen

Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel

This test analyzes genes associated with familial gastrointestinal stromal tumor syndrome (GIST), which is a rare hereditary gastrointestinal cancer predisposition syndrome.
The genes in the Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel are associated with familial GIST, but the overall percentage of hereditary GIST cases attributed to these genes is currently unclear. Inclusion of several GIST-related genes is expected to increase the clinical sensitivity of this test.
Source: Invitae

Invitae Gastric Cancer Panel

The Invitae Gastric Cancer Panel analyzes genes that are associated with an increased lifetime risk of developing stomach cancer. These genes were selected based on the available evidence to date to provide Invitae’s broadest hereditary gastric cancer test. Many of these genes are also associated with an increased risk of other cancer types.
The primary panel includes 18 genes that are associated with with hereditary gastric cancer. In addition to the primary panel, clinicians can also choose to include a gene, CTNNA1, that has limited evidence of association with gastric cancer.
Source: Invitae

PGL / PCC / GIST panel, targeted

Tested genes GDNF, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL

Source: Centogene

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

The family history is suggestive of a predisposition to PGL/PCC. Although SDHB, SDHC, and SDHD are the genes that are the most often associated with classic forms of hereditary paraganglioma/pheochromocytoma syndrome, there are several other genes that cause an increased risk of these tumors.
Tested genes: FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

Source: GeneDx

PIEBALDISM AND FAMILIAL GASTROINTESTINAL STROMAL TUMORS (GISTS) VIA THE KIT GENE

Mutations in the c-kit proto-oncogene (KIT) cause a variety of disorders, including piebaldism, gastrointestinal stromal tumors (GISTs), germ cell tumors (GCTs) and hematopoietic neoplasms such as acute myeloid leukemia (AML), chronic myeloid leukemia (CML) and malignant lymphoma (reviewed in Akin and Metcalfe, J Allergy Clin Immunol 114:13-19, 2004).
Source: Prevention Genetics

Polyposis Syndromes

Numerous polyposis syndromes may present with gastrointestinal (GI) polyps. Hereditary types include familial adenomatous polyposis and hamartomatous polyposis, and other rare polyposis syndromes. Molecular genetic testing enables differential diagnosis of GI polyposis syndromes often defined with overlapping and indistinguishable phenotypes.
Familial adenomatous polyposis (FAP), MUTYH-associated polyposis, BMPR1A-related juvenile polyposis, SMAD4-related juvenile polyposis, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome are included in the testing.
Source: Asper Biotech


Hematologic Cancer (see also Leukemia, Lymphoma and Myeloma)

FoundationOne Heme

FoundationOne Heme is a fully informative genomic profile for hematologic cancers (leukemia, lymphoma and myeloma) and sarcomas, designed to provide physicians with clinically actionable information to guide treatment options for patients based on the genomic profile of their cancer. It is Foundation Medicine's second commercially available targeted sequencing assay.
source FoundationOne

Website

Hematopoietic Disorders Gene Set

Targeted genes: ABL1, ASXL1, ATM, BCOR, BIRC3, BRAF, CALR, CBL, CEBPA, CREBBP, CSF1R, CSF3R, DNMT3A, EP300, ETV6, EZH2, FBXW7, FGFR4, FLT3, GATA1, GATA2, GATA3, IDH1, IDH2, IL7R, JAK2, JAK3, KDM6A, KIT, KRAS, KMT2A*, MPL, NF1, NOTCH1, NOTCH2, NPM1, NRAS, NSD1, PAX5, PDGFRA, PDGFRB, PTPN11, RUNX1, SETB1, SF3B1, SRSF2, STAG2, TERT, TET1, TET2, TP53, TSLP, U2AF1 and ZRSR2 (*rearrangements also detected)
Source: WUSTL

Hereditary Lymphoma Panel

Our Tier 1: Hereditary Lymphoma Panel includes sequencing and deletion/duplication analysis of the following 8 genes: CHEK2, KLHDC8B, NPAT, TP53, MLH1, MSH2, MSH6 and PMS2.

Source: The University of Chicago Genetic Services

MyAML™ panel

Our MyAML™ panel screens for nearly 200 genes that may be associated with the development of AML, including 36 important fusions. With reports geared to help identify pertinent therapies and relevant clinical trials, we at Genection are helping doctors and their patients either newly diagnosed with AML, or those patients out of remission.
Source: genection

Website


Hereditary Cancers

CANCER NEXTGEN SEQUENCING (NGS) PANEL

This NextGen test analyzes multiple genes involved in multiple hereditary cancer syndromes which are inherited in an autosomal dominant manner. Several types of cancers may be found in a pedigree and this test may help in the differential diagnosis and rule out particular syndromes by simultaneously analyzing multiple genes involved in hereditary cancers.The Cancer NextGen Sequencing Panel analyzes 35 genes that have been associated with hereditary cancers. For this NGS panel, the full coding regions, plus ~20bp of non-coding DNA flanking each exon, are sequenced for each of the genes.
Source: Prevention Genetics

Cancer Panel, Hereditary, Sequencing and Deletion/Duplication

Genes tested by Sequencing: ALK, APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2 common mutations, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF2, PALB2, PHOX2B, PMS2, PTEN, RAD51C, RAD51D, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1,STK11, SUFU, TMEM127, TSC1, TSC2, TP53, VHL

Genes tested by Deletion/Duplication: ALK, APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2 common mutations, EPCAM deletion only, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF2, PALB2, PHOX2B, PMS2, PTEN, RAD51C, RAD51D, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1,STK11, SUFU, TMEM127, TSC1, TSC2, TP53, VHL
Source: Arup Laboratories

Comprehensive hereditary cancer panel

Tested genes ALK, APC, ATM, BAP1, BLM, BMPR1A, BRIP1, CDC73, CDH1, CDK4, CDKN2A, CEBPA, CHEK2, CYLD, DDB2, DICER1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCC, FANCD2, FANCF, FANCG, FH, FLCN, GATA2, GDNF, HNF1A, HRAS, KIT, MEN1, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PAX5, PDGFRA, PHOX2B, PMS1, PMS2, POT1, PRKAR1A, PTCH1, PTEN, RB1, RECQL4, RET, RUNX1, SBDS, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC

Source: Centogene

ESTIMATE™

ESTIMATE™ Cancer Panel, a new multi-gene diagnostic test that provides increased sensitivity to the risk of malignancies by analyzing 32 genes associated with eight major malignant tumor types including: breast, colorectal, ovarian, endometrial, pancreatic, prostate, gastric cancers and melanoma.

ESTIMATE™ Cancer Panel will improve the quality of patient care by empowering healthcare providers with the knowledge of their patient’s risk for hereditary cancer as well as the appropriate medical management options available based on that risk. The test represents the next generation of hereditary cancer testing and will provide healthcare providers with clear and actionable information to improve patient care, regardless of whether the patient receives a positive or negative test result.

Source: Pentacorelab

Hereditary Cancer NGS Panel

Targeted Genes:(112) AIP, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNB1, CYLD, DDB2, DICER1, EGFR, EGLN1, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXO1, EXT1, EXT2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GPC3, HOXB13, HRAS, KIF1B, KIT, MAX, MC1R, MEN1, MET, MITF, MLH1, MPL, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PDGFRA, PICALM, PMS1, PMS2, POLD1, PRKAR1A, PRKDC, PRSS1, PTCH1, PTEN, PTPN11, RAD50, RAD51, RAD51C, RAD51D, RB1, RBBP8, RBM15, RECQL4, RET, ROBO2, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, TSHR, TYR, VHL, WRN, WT1, XPA, XPC, XRCC2, XRCC3
Source: Fulgent Diagnostics

Hereditary Cancer panel

Targeted genes BRCA1, BRCA2, TP53, PTEN, ATM, BLM, PALB2, RAD51D, RAD51C, BRIP1, STK11, BARD1, PIK3CA, XRCC2, NBN, FANCC, SDHB, CHEK2, RECQL, CDH1, APC, MUTYH, MSH2, MSH6, MLH1, PMS2, EPCAM, RET, MEN1, NTRK1, RB1, MET, CDKN2A, CDK4, BaP1, AKT1, WT1, NF1, NF2

Source: Mendelics

Hereditary Cancer Syndromes, Comprehensive Diagnostics

Multi Gene Panel (94 Genes)
Targeted genes: AIP ALK APC ATM BAP1 BLM BMPR1A BRCA1 BRCA2 BRIP1 BUB1B CDC73 CDH1 CDK4 CDKN1C CDKN2A CEBPA CEP57 CHEK2 CYLD DDB2 DICER1 DIS3L2 EGFR EPCAM ERCC2 ERCC3 ERCC4 ERCC5 EXT1 EXT2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FH FLCN GATA2 GPC3 HNF1A HRAS KIT MAX MEN1 MET MLH1 MSH2 MSH6 MUTYH NBN NF1 NF2 NSD1 PALB2 PHOX2B PMS1 PMS2 PRF1 PRKAR1A PTCH1 PTEN RAD51C RAD51D RB1 RECQL4 RET RHBDF2 RUNX1 SBDS SDHAF2 SDHB SDHC SDHD SLX4 SMAD4 SMARCB1 STK11 SUFU TMEM127 TP53 TSC1 TSC2 VHL WRN WT1 XPA XPC
Source: Medical Genetics Center

Hereditary Cancer Syndrome: Sequencing Panel

Approximately 5-10% of all cancers are inherited, meaning that pathogenic variants in a single cancer susceptibility gene can predispose an individual to develop cancer and these pathogenic variants can be passed down in families. The risk for developing cancer can vary dramatically from syndrome to syndrome, from about a 55% risk of developing breast cancer in Peutz-Jeghers syndrome to as high as a 100% risk for colon cancer for familial adenomatous polyposis syndrome. Accurate and timely diagnoses are necessary to provide proper medical surveillance and treatment to affected and at-risk individuals.
Targeted genes: (60) AIP, ALK, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CHEK2, FH, FLCN, GPC3, MAX, MEN1, MET, MGMT, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF2, PALB2, PHOX2B, PMS2, POLD1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XRCC2
Source: Emory Genetics Laboratory

Invitae Hereditary Cancer Syndromes Panel

The hereditary cancer syndromes panel includes up to 34 genes that can cause adult-onset cancers, including breast cancer, ovarian cancer, uterine cancer, colorectal cancer, and pancreatic cancer as well as other cancer types.
The primary panel includes 33 genes that are associated with breast cancer, ovarian cancer, uterine/endometrial cancer, colorectal cancer, and pancreatic cancer as well as other cancer types. In addition to the primary panel, clinicians can also choose to include a gene, PALLD, that has limited evidence of association.
Source: Invitae


Hyperparathyroidism Cancer

Invitae Hyperparathyroidism Panel

The Invitae Hyperparathyroidism Panel analyzes five genes associated with hereditary hyperparathyroidism (HPT). These genes were curated based on the available evidence to date and provide Invitae’s most comprehensive test for individuals and families with features of HPT.
Individuals with a pathogenic variant in one of the genes on this panel have a higher risk of developing parathyroid disease—a disease that can be difficult both to detect and to treat.
Source: Invitae


Kidney Cancer

Invitae Renal/Urinary Tract Cancers Panel

The Invitae Renal/Urinary Tract Cancers Panel analyzes up to 29 genes associated with an increased lifetime risk of developing cancers of the urinary tract (kidneys, renal pelvis, ureters, bladder, and urethra). These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive panel for hereditary renal/urinary tract cancers. Many of these genes are also associated with an increased risk of other cancer types.
Source: Invitae

RENALNEXT

RenalNext is a next generation sequencing (NGS) panel that simultaneously analyzes 19 genes associated with increased risk for kidney cancer.
Ambry utilizes NGS to offer a comprehensive hereditary kidney cancer panel. Genes on this panel include BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL. Full gene sequencing is performed for 18 of the genes (excluding EPCAM). For MITF, only the status of the c.952G>A (p.E318K) alteration is analyzed and reported. Gross deletion/duplication analysis is performed for 18 genes (excluding MITF).
Source: Ambry Genetics

Renal Cancer

Multi Gene Panel (16 Genes)
Targeted genes: BAP1 CHEK2 FH FLCN GPC3 MET PTEN SDHB SDHC SDHD SMARCB1 TP53 TSC1 TSC2 VHL WT1
Source: Medical Genetics Center

RENAL CANCER NEXTGEN SEQUENCING (NGS) PANEL

Renal cell carcinoma is the most common type of kidney cancer and includes many subtypes such as clear cell, papillary, chromophobe, and oncocytoma accounting for approximately 75%, 12%, 5% and 4% of cases.
The renal cancer next generation sequencing panel assesses genes (CDC73, FH, FLCN, MET, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1) that have been shown to be causative when mutated for disorders that have renal cancer as a clinical feature.
Source: Prevention Genetics

Renal Cancer Panel

The family history is suggestive of a predisposition to renal cancer. Although VHL, MET, FLCN, FH, TSC1 and TSC2 are the genes that are the most often associated with classic forms of hereditary renal cancer, there are several other genes that cause an increased risk of renal cancer. Tested genes: BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

Source: GeneDx

Renal cancer panel, targeted

tested genes EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1

Source: Centogene

Renal Cancer: Sequencing Panel

Renal cancer is a multifarious and heterogeneous disease with a varied spectrum of malignant subtypes and clinical presentation. A number of gene mutations have been reported in the literature. Renal cell carcinoma (RCC) tumor subtypes include clear cell or conventional (70-80%); papillary type 1 and type 2 (10-15%); chromophobe (3-5%) and collecting duct (1%). The general population's lifetime risk to develop RCC is 1.5%. RCC is the seventh and eighth most common cancer in men and women respectively.
Targeted genes: BAP1, BUB1B, CDC73, CDKN1C, FH, FLCN, GPC3, MET, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SDHB, SDHC, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1
Source: Emory Genetics Laboratory

Renal Hereditary Cancer Panel

Sequencing and Deletion/Duplication, 15 Genes
Source: Arup Laboratories


Leukemia

AML / MDS NEXT GEN SEQUENCING LEUKEMIA PANEL

Screening for mutations in oncogenes and tumor suppressor genes is increasingly important in delivering personalized cancer care. The AML/MDS Genotyping Panel delivers information on predictive and prognostic mutations commonly involved in acute myelogenous leukemia and myelodysplasias, as well as detecting some mutations that may directly inform targeted or non-targeted treatment options. The panel has a sensitivity of ~5 % mutant allele with strict next generation sequencing quality control parameters.
Source: Responsegenetics

Website

CLL MASTR Plus

For identification of somatic mutations in 9 genes associated with Chronic Lymphocytic Leukemia (CLL) The CLL MASTR Plus is a molecular assay for the identification of both SNVs and CNAs in 9 selected genes (listed under the specifications tab) in individuals with indication of CLL. Multiplicom’s CLL MASTR Plus assay is provided as a ready-to-use kit that offers robust performance with minimum hands-on time. All reagents for multiplex amplification of 251 unique amplicons (261-437 bp), ensuring complete coverage of all coding sequences in 6 PCR reactions are included.
Source: multiplicom

Website

ClearSeq AML

The ClearSeq AML targets 20 genes found to be frequently mutated in acute myeloid leukemia (AML).This panel is designed for full coverage of target regions with multiple amplicons covering each target for greater confidence in somatic variant calling.
Compatible with HaloPlex Target Enrichment System.
Source: Agilent

Website

Familial Myelodysplastic Syndrome/Acute Leukemia Panel

Our Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia Panel includes sequence and deletion/duplication analysis of the following 10 genes: ANKRD26, CEBPA, GATA2, RUNX1, SRP72, TERC, TERT, TP53, plus sequence analysis only of ETV6 and DDX41.

Source: The University of Chicago Genetic Services

GS GType TET2/CBL/KRAS

Obtain a comprehensive picture of genetic variation for four key human genes using the GS GType TET2/CBL/KRAS Primer Set. Accurately identify variants associated with developmental defects, disease progression, and residual disease in a variety of leukemias and myeloid malignancies using next-generation deep sequencing of PCR amplicons. This complete solution includes primer sets, protocols, and dedicated analysis software, such as the 454 GS Amplicon Variant Analyzer software or JSI Medical Systems’ SeqNext Software.
Source: Roche

Website

Invitae Myelodysplastic Syndrome/Leukemia Panel

This test analyzes up to 21 genes that are associated with a hereditary predisposition to the development of myelodysplastic syndrome (MDS) and acute leukemias. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive hereditary MDS/leukemia panel. Some of these genes are also associated with an increased risk of other cancer types.
In addition to the primary panel, clinicians can also choose to include five genes that have limited evidence of association with MDS/leukemia.
Source: Invitae

xGen® Acute Myeloid Leukemia Cancer Panel

The xGen® AML Cancer Panel v1.0 provides 11,743 individually synthesized and quality controlled xGen Lockdown® Probes to achieve deep enrichment of targets from more than 260 genes associated with the AML disease pathway.

Source: IDT


Liver Cancer

Human Liver Cancer Panel

The Human Liver Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 33 genes most commonly mutated in human liver cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. Hepatocellular carcinoma (HCC), the most common form of liver cancer, has a poor prognosis and low survival rate. The second most common form of liver cancer is cholangiocarcinoma, a cancer of the bile ducts.
Source: Qiagen


Lung Cancer

Human Lung Cancer Panel

The Human Lung Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 4 genes most commonly mutated in human lung cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. The 2 major forms of lung cancer are small-cell lung carcinoma (SCLC) and non-small-cell lung carcinoma (NSCLC).
Source: Qiagen

Lung Cancer Comprehensive Mutation and Translocation Panel

Lung Cancer Comprehensive Mutation and Translocation Panel by Next Generation Sequencing
Most comprehensive screening panel for determining eligibility for TKI therapy. Detects mutations in ALK, AKT1, BRAF, EGFR, ERBB2, ERBB4, KRAS, NRAS, and PIK3CA genes, and ALK, ROS, and RET translocations.
Source: Arup Laboratories


Melanoma

Hereditary melanoma

Targeted genes CDKN2A, CDK4, BaP1, NBN

Source: Mendelics

Hereditary Melanoma Panel

Our Hereditary Melanoma Sequencing Panel includes sequence analysis of the following 8 genes: CDKN2A, BRCA2, CDK4, MC1R, BAP1, TP53, BRCA1 and WRN.
Source: The University of Chicago Genetic Services

Website

Invitae Melanoma Panel

The Invitae Melanoma Panel analyzes up to 11 genes associated with a hereditary predisposition to melanoma. These genes were selected based on available evidence to provide Invitae’s most comprehensive test targeting hereditary melanoma.
In addition to the primary panel, clinicians can also choose to include three genes that have limited evidence of association with hereditary melanoma.
Source: Invitae

Melanoma Gene Set

Targeted genes: AKT1, ALK*, BAP1, BRAF, CDK4, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2*, FGFR3*, GNA11, GNAQ, HRAS, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NF1, NRAS, PDGFRA, PDGFRB, PIK3CA, PTEN, RAC1, RB1, RET*, ROS1* and TP53 (*rearrangements also detected)
Source: WUSTL

Melanoma Hereditary Cancer Panel

Melanoma Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 6 Genes
Source: Arup Laboratories

Melanoma NGS Panel

Tageted Genes: BRCA1, BRCA2, CDK4, CDKN2A, ERCC3, MC1R, MITF, PTEN, RB1, TERT, TP53, TYR, WRN
Source: Fulgent Diagnostics

Sentosa SQ Melanoma panel

Sentosa SQ Melanoma panel, the first NGS panel for the diagnosis of cancer relevant genes. Results generated by the Sentosa SQ reporting software will aid in clinical decision making for the treatment of cancer.
Source: Vela Diagnostics

Website


Myeloid

Focus::Myeloid™

Focus::Myeloid™ is a unique NGS panel with 54 biomarkers that provides actionable information for improved diagnosis, prognosis, and risk stratification. Based on the Focus::Myeloid™ result, each patient can receive the most suitable treatment tailored to their unique cancer. By personalizing diagnosis and improving risk stratification, Focus::Myeloid™ delivers on the promise of precision medicine and is designed for acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and myeloproliferative neoplasms (MPN).
Source: Cancer genetics

Website

Human Myeloid Neoplasms Panel

The Human Myeloid Neoplasms GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 50 genes most commonly mutated in human myeloid leukemia samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for cancer classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. The term myeloid leukemia covers a spectrum of diseases called hematological neoplasms, but mostly refers to cancer of the blood or bone marrow characterized by an abnormal increase in immature myeloid white blood cells.
Source: Qiagen

Myelofibrosis NGS panel

Targeted Genes: CALR, JAK2, MPL, SH2B3
Source: Fulgent Diagnostics

Myeloid Malignancies Mutation Panel

Assesses for single gene mutations, including substitutions and insertions and deletions that may have diagnostic, prognostic, and/or therapeutic significance in
•Acute myeloid leukemia
•Myelodysplastic syndromes
•Myeloproliferative neoplasms
•MDS/MPN overlap disorders such as chronic myelomonocytic leukemia
Genes tested: ASXL1, ASXL2, BCOR, BCORL1, BRAF, BRINP3, CALR, CBL, CEBPA, CSF3R, DNMT1, DNMT3A, EED, ELANE, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, HNRNPK, IDH1, IDH2, JAK2, JAK3, KDM6A, KIT, KMT2A, KRAS, LUC7L2, MAP2K1, MPL, NOTCH1, NPM1, NRAS, NSD1, PHF6, PRPF40B, PRPF8, PTPN11, RAD21, RUNX1, SETBP1, SF1, SF3A1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, SUZ12, TET2, TP53, U2AF1, U2AF2, WT1, ZRSR2
Source: Arup Laboratories

Myeloid Tumor Panel

Tested genes BL1 (Ex4-Ex6), ASXL1 (Ex12), ATRX (Ex08-10, Ex17-31), BCOR (full gene), BCORL1 (full gene), BRAF (Ex15), CALR (Ex09), CBL (Ex08-E09), CBLB (Ex09, Ex10), CBLC (Ex09, Ex10), CDKN2A (full gene), CEBPA (full gene), CSF3R (Ex14-Ex17), CUX1 (full gene), DNMT3A (full gene), ETV6/TEL (full gene), EZH2 (full gene), FBXW7 (Ex09-Ex11), GATA1 (Ex02), GATA2 (Ex02-Ex06), GNAS (Ex08-Ex09), HRAS (Ex02-Ex03), IDH1 (Ex04), IDH2 (Ex04), IKZF1 (full gene), JAK2 (Ex12, Ex14), JAK3 (Ex13), KDM6A (full gene), KIT (Ex2, Ex08-Ex11, Ex13, Ex17), KRAS (E02-E03), MLL (Ex05-Ex08), MPL (Ex10), MYD88 (Ex03, Ex04, Ex05), NOTCH1 (Ex26-Ex27, Ex34), NPM1 (Ex12), NRAS (Ex02-Ex03), PDGFRA (Ex12, Ex14, Ex18), PHF6 (full gene), PTEN (Ex05, Ex07), PTPN11 (Ex3, Ex13), RAD21 (full gene), RUNX1 (full gene), SETBP1 (Ex04 (partial)), SF3B1 (Ex13-Ex16), SMC1A (Ex2, Ex11, Ex16, Ex17), SMC3 (Ex10, Ex13, Ex19, Ex23, Ex25, Ex28), SRSF2 (Ex01), STAG2 (full gene), TET2 (Ex3-Ex11), TP53 (Ex2-Ex11), U2AF1 (Ex02, Ex06), WT1 (Ex07, Ex09), ZRSR2 (full gene)

Source: Centogene

SureSeq Myeloid Panel

The SureSeq Myeloid Panel is a 25-gene myeloid disorders hybridisation-based NGS enrichment panel with complimentary SureSeq Interpret Software that delivers accurate and easy identification of variants.
Source: Oxford Gene Technology

Website

ThunderBolts™ Myeloid Panel

The ThunderBolts™ Myeloid Panel is a next-generation sequencing (NGS) assay for profiling important mutations in known genes implicated in the causation, prognosis and recurrence of myeloid disorder research. Developed in collaboration with a consortium of hematology oncology experts from comprehensive cancer centers in the U.S. and Europe, the panel runs on the ThunderBolts™ System and features NGS breakthroughs in sequence coverage and uniformity, allelic sensitivity, sample input requirements, and workflow.
Source: Raindance Technologies

Website


Non small cell lung cancer (NSCLC)

GeneTrails® NSCLC Panel

Screening for mutations in oncogenes and tumor suppressor genes is increasingly important in delivering personalized cancer care. The GeneTrails® NSCLC Panel delivers information on a variety of treatment-informative mutations in the 23 genes listed below, which are known to play a role in cases of non-small cell lung cancer. The next-gen sequencing panel has a sensitivity of ≤10% mutant allele.
Source: Knight Diagnostic Laboratories
Targeted genes: AKT1 DDR2 JAK2 NOTCH1 NTRK3 PTEN ALK* EGFR KDR NRAS PIK3CA PTPRD BRAF ERBB2 KRAS NTRK1 PIK3R1 TP53 CDKN2A HRAS MAP2K1 NTRK2 PIK3R2

NSCLC NEXT GENERATION SEQUENCING PANEL

Website

Sentosa SQ NSCLC Panel

The Sentosa SQ NSCLC Panel is a Next-Generation Sequencing (NGS)-based in vitrodiagnostic test that simultaneously detects hot spot mutations in 11 genes from formalin-fixed paraffin-embedded (FFPE) samples that have previously demonstrated clinical relevance in the management of patients with non-small cell lung cancer (NSCLC).
Source: Vela Diagnostics

Website


Ovarian Cancer (see also Breast Cancer) 

GYNPLUS

GYNplus is a next generation sequencing panel of 9 genes associated with high risk for ovarian and/or uterine cancer (BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, and TP53). These nine genes are associated with four hereditary cancer syndromes (Hereditary Breast and Ovarian Cancer (HBOC), Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome) all of which have published management guidelines.
Source: Ambry Genetics

Human Ovarian Cancer Panel

The Human Ovarian Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 32 genes most commonly mutated in human ovarian cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. Ovarian cancer has the highest mortality rate of all gynecological cancers, partly because it is often discovered at a late stage of progression.
Source: Qiagen

OVANEXT

Ambry utilizes NGS to offer a comprehensive hereditary gynecologic cancer panel. Genes on this panel include: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53. Full gene sequencing is performed for 23 of the genes (excluding EPCAM). Gross deletion/duplication analysis is performed for all 24 genes.
Source: Ambryo Genetics

Ovarian Cancer

Multi Gene Panel (27 Genes)
Targeted genes: ATM BRCA1 BRCA2 BRIP1 BUB1B CEP57 CHEK2 DICER1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL MLH1 MSH2 MSH6 NBN PALB2 PMS2 RAD51C RAD51D SLX4 TP53
Source: Medical Genetics Center

Ovarian cancer panel, targeted

Tested genes BARD1, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MRE11A, MSH2, MSH6, NBN, PMS1, PMS2, RAD50, RAD51C, RAD51D, STK11, TP53

Source: Centogene

OvaSeq

Ovaeq is an ultrasequencing panel (NGS) which analyzes simultaneously 24 genes and 89 SNPs associated with susceptibility to hereditary ovarian cancer, breast and uterus.
Currently breast and ovarian cancer could be explained by inherited mutations in high penetrance genes BRCA1 and BRCA2 in 10-18% of cases. However, in recent years other genes have been identified by their relation to breast and ovarian cancer in families. Other genes associated with Lynch syndrome could significantly increase the risk of uterine cancer and ovarian cancer, while others such as PTEN could increase the risk of breast and uterine cancer.

Source: ACgen

SureSeq Ovarian Cancer Panel

The SureSeq Ovarian Cancer Panel has been developed with leading cancer experts and covers all coding exons of seven genes . The panel allows detection of known and novel variants in tumour suppressor genes as well as genes involved in homologous repair to advance research into ovarian cancer treatment and for use in clinical trials to help the development of new targeted therapies.
Source: Oxford Gene Technology

Website


Pancreatic Cancer

Hereditary Pancreas cancer

Targeted genes APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, FANCC, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, XRCC2

Source: Mendelics

Invitae Pancreatic Cancer Panel

The Invitae Pancreatic Cancer Panel analyzes genes that are associated with a hereditary predisposition for pancreatic cancer. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for pancreatic cancer.
The primary panel includes 20 genes that are associated with with hereditary pancreatic cancer. In addition to the primary panel, clinicians can also choose to include three genes that have limited evidence of association with pancreatic cancer.
Source: Invitae

PANCNEXT

PancNext is a next generation sequencing (NGS) panel that simultaneously analyzes 13 genes associated with increased risk for pancreatic cancer.
Genes on this panel include APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, and TP53. Full gene sequencing is performed for 12 of the genes (excluding EPCAM). Gross deletion/duplication analysis is performed for all 13 genes. Specific-site analysis is available for individual gene mutations identified in a family.
Source: Ambry Genetics

Pancreatic Cancer

Multi Gene Panel (11 Genes)
Targeted genes: BRCA2 CDKN2A CHEK2 MLH1 MSH2 MSH6 PALB2 PMS1 PMS2 PTEN STK11
Source: Medical Genetics Center

PANCREATIC CANCER NEXTGEN SEQUENCING (NGS) PANEL

The Pancreatic Cancer NextGen Sequencing Panel analyzes 10 genes (APC, ATM, CDKN2A, MLH1, MSH2, MSH6, PALB2, PAMS2, STK11 and TP53 that have been associated with familial pancreatic cancers. The mode of inheritance appears to be autosomal dominant and may show anticipation (Bartsch et al. 2012).
Source: Prevention Genetics

Pancreatic Cancer NGS Panel

Targeted Genes: APC, ATM, BAP1, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53
Source: Fulgent Diagnostics

Pancreatic Cancer Panel

The family history is suggestive of a predisposition to pancreatic cancer. Although the BRCA2, PALB2, CDKN2A, STK11, ATM, and Lynch syndrome genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of pancreatic cancer.
Tested genes: APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL, XRCC2

Source: GeneDx

Pancreatic cancer panel, targeted

Tested genes APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11

Source: Centogene

Pancreatic Cancer: Sequencing Panel

The American Cancer Society estimates 46,420 people (23,530 men and 22,890 women) will be diagnosed with pancreatic cancer in 2014. The lifetime risk of developing pancreatic cancer is about 1 in 78 (1.47%). Pancreatic tumors arise from either the exocrine cells or endocrine cells of the pancreas.
Targeted genes: (14) APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, STK11, TP53, VHL
Source: Emory Genetics Laboratory

PancSeq

PancSeq is an ultrasequencing panel (NGS), which analyzes simultaneously 12 genes associated with susceptibility to different types of hereditary pancreatic cancer.
Most pancreatic cancers are sporadic. Different studies have found that between 5-10 % of cases of pancreatic cancer are familial, especially in families where there are several people affected. Multiple known genes are involved in susceptibility to pancreatic cancer. PancSeq panel provides the possibility of simultaneous and accurate study of 12 genes related to pancreatic hereditary cancer.

Source: ACgen


Paragangliomas (PGLs) & Pheochromocytomas (PCCs)

Invitae Hereditary Paraganglioma-Pheochromocytoma Panel

The Invitae Hereditary Paraganglioma-Pheochromocytoma Panel analyzes up to 14 genes that are associated with an increased risk for hereditary paraganglioma-pheochromocytoma syndrome (PGL/PCC). Individuals with pathogenic variants in these genes have an increased risk for paragangliomas and/or pheochromocytomas, which may or may not be malignant. Some of the genes on this panel are also associated with gastrointestinal stromal tumors (GIST); they may be related to other cancers as well.
Source: Invitae

PGLNEXT

PGLNext is a next generation sequencing (NGS) panel that simultaneously analyzes 12 genes associated with an increased risk of developing paragangliomas (PGLs) and/or pheochromocytomas (PCCs).
Ambry utilizes NGS to offer a comprehensive hereditary PGL/PCC panel. Genes on this panel include FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL. Full gene sequencing and gross deletion/duplication analysis is performed for all 12 genes.
Source: Ambry Genetics


Prostate Cancer

Human Prostate Cancer Panel

The Human Prostate Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 32 genes most commonly mutated in human prostate cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. Prostate cancer is a neoplasm of the male reproductive gland with a high mortality rate.
Source: Qiagen

Invitae Prostate Cancer Panel

This test analyzes up to 12 genes associated with a hereditary predisposition to prostate cancer. These genes were selected based on available evidence to provide Invitae’s most comprehensive test targeting hereditary prostate cancer.
In addition to the primary panel, clinicians can also choose to include a gene that has limited evidence of association with hereditary prostate cancer.
Source: Invitae

Prostate cancer panel

Tested genes BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, PTEN, TP53

Source: Centogene

PROSTEON-GENETIC™

SCREENING FOR HEREDITARY, FAMILIAL PROSTATE CANCER IS AVAILABLE AT PENTACORE LABORATORY!
Prostate cancer is one of the most common tumorous diseases among men. The risk of an average men getting diagnosed with prostate cancer is 16%. It is well-known, that the most important risk factor is a positive family history. Fifteen percent of all prostate tumors are hereditary.

During the prevention it is really important to identify those persons who are at risk due to a positive family history of prostate cancer. There is a hereditary (genetic) mutation in the background of approx. 15% of all prostate cancers. In case of positive family history it is possible to screen mutations with high and medium penetrance at our laboratory for the following genes:
BRCA2, BRCA1, CHEK2, NBS1, HOXB13

Source: Pentacorelab


Sarcoma

Invitae Sarcoma Panel

This test analyzes up to 40 genes that are associated with a hereditary predisposition to the development of sarcomas—particularly bone and soft tissue sarcoma that can be found in any part of the body. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive hereditary sarcoma panel. Many of these genes are also associated with an increased risk of other cancer types.
In addition to the primary panel, clinicians can also choose to include four genes that have limited evidence of association with sarcoma.
Source: Invitae


Skin Cancer

Skin cancer panel, targeted

Tested genes CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, POT1, PTCH1, XRCC3

Source: Centogene

XERODERMA PIGMENTOSUM SEQUENCING PANEL

Xeroderma pigmentosum is an autosomal recessive disorder caused by mutations in the XPA, ERCC3, XPC, ERCC2, DDB2, ERCC4, and ERCC5 genes, which belong to the XPA, XPB, XPC, XPD, XPE, XPF, and XPG complementation groups, respectively.
Source: Prevention Genetics

This panel sequences the DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC genes.


Solid Tumors

GeneTrailsTM solid tumor panel

Our GeneTrailsTM solid tumor panel (Ion Torrent® platform delivers information on 37 genes commonly involved in solid tumors. The panel has a sensitivity of ~5-15% mutant allele, depending upon the gene.
Source: Knight Diagnostic Laboratories

Human Tumor Actionable Mutations Panel

The Human Tumor Actionable Mutations GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the key regions of 8 genes identified by the National Comprehensive Cancer Network (NCCN), College of American Pathologists (CAP), and American Society of Clinical Oncology (ASCO) to be clinically actionable somatic mutations in solid tumors.
Source:Qiagen

Solid Tumor Gene Set

Targeted genes: AKT1, AKT2, AKT3, ALK*, ATM, BAP1, BRAF, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CREBBP, CSF1R, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FANCA, FGFR1, FGFR2*, FGFR3*, FGFR4, FLT1, FLT3, FLT4, GNAS, HRAS, IDH1, IDH2, JAK1, JAK2, KDR, KIT, KRAS, MAP2K1, MAP2K2, MET, MLH1, MTOR, MYC, NF1, NOTCH1, NOTCH2, NRAS, NTRK1*, PALB2, PDGFRA, PDGFRB, PIK3CA, PTEN, RAD54B, RB1, RET*, RIT1, ROS1*, SMAD4, STK11, TP53, TSC1, TSC2 and VHL (*rearrangements also detected
Source: WUSTL

SOLID TUMOR GENOTYPING PANEL

Screening for mutations in oncogenes and tumor suppressor genes is increasingly important in delivering personalized cancer care. The Solid Tumor Panel delivers information on 37 genes commonly involved in solid tumors. The panel has a sensitivity of ~5-15% mutant allele, depending on the gene.
Source: Responsegenetics

Website

Solid Tumor Mutation Panel

Useful for prognosis and/or treatment of individuals with
solid tumor cancers at initial diagnosis or in the presence of refractory disease
Genes – ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A,
CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1,
FGFR2, FGFR3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1,
IDH2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1,
NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET,
SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL
Source: Arup Laboratories

Solid Tumor Panel

Tested genes ABL1, AKT1, ALK, APC, AR, ARID1A, ASXL1, ATM, AXL, BRAF, CDH1, CDK4, CDKN2A, CTNNB1, DDR2, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, FGFR4, GNA11, GNAQ, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KDM6A, KDR, KIT, KRAS, MAP2K1, MET, MLH1, MLL, MLL2, MLL3, MTOR, NF1, NOTCH1, NRAS, NTRK3, PDGFRA, PDGFRB, PIK3CA, PIK3R1, PTCH1, PTEN, PTPN11, RB1, RET, ROS1, SMAD4, SMARCA4, SMARCB1, SMO, STK11, TP53, TSC1, VHL

Source: Centogene

SOMATIC CANCER PANEL

he test detects mutations across 26 genes (targeted with 174 amplicons) in cancer cells, mutations which may be driving the growth of the cancer in patients with solid tumors. Many of these genes, including KRAS, EGFR and BRAF, have been associated with cancers such as melanoma, colorectal, ovarian and lung. With "somatic cancer panel", the DNA Research Center can detect mutations occurring even below 5% frequency reliably.

Source: DNA Research Center

SureSeq™ Solid Tumour Panel

The SureSeq™ Solid Tumour Panel is fully validated on FFPE samples, the 60-gene NGS SureSeq Solid Tumour Panel allows discovery of novel and known variants in a range of solid tumours.
Source: Oxford Gene Technology

Website

Targeted Tumor Mutation: Sequencing Panel

DNA isolated from solid tumors is hybridized using a library containing 175 exons in 26 different genes using next generation sequencing (NGS) at a minimum depth of 1000X. Each of these select exons contain pathogenic variants that are associated with cancer progression and resistance to therapy. Pathogenic variants are detected at a minimum 10% variant frequency enabling the detection of pathogenic variants in heterogeneous samples at a high read depth.
Targeted genes: (26)
Lung: AKT1, ALK, BRAF, CTNNB1, EGFR, KRAS, MAP2K1, MET, NRAS, PIK3CA, PTEN, TP53
Colon: AKT1, APC, BRAF, CTNNB1, EGFR, FBXW7, KRAS, MET, NRAS, PIK3CA, PTEN, SRC, TP53
Melanoma: BRAF, GNAQ, KIT, KRAS, MAP2K1, NRAS, PIK3CA, PTEN
Gastric: AKT1, BRAF, FGFR2, KIT, PDGFRA, PIK3CA, TP53
Ovarian: AKT1, BRAF, ERBB2, KRAS, PIK3CA, PTEN, TP53
Source: Emory Genetics Laboratory

TruSight Tumor

The TruSight Tumor sequencing panel takes a deeper view of variation in solid tumors including lung, colon, melanoma, gastric and ovarian. This enables clinical researchers to identify low-frequency variation across 26 genes for a more comprehensive view of somatic variation.
Source: Illumina

Website


Thyroid Cancer

Endocrine Cancer: Sequencing Panel

Thyroid cancer is divided into several subcategories: (1) differentiated (follicular, papillary and Hurthle); (2) medullary; and (3) anaplastic (aggressive undifferentiated tumor). Medullary thyroid cancer (MTC) develops from the "C" or parafollicular cells of the thyroid gland which produce calcitonin. Approximately 80% of the cases of MTC are sporadic. The remaining inherited syndromes include multiple endocrine neoplasia (MEN) type 2A (also known as MEN 2A), MEN 2B, and familial MTC (FMTC). All three of these subtypes, MEN 2A, MEN 2B and FMTC, are inherited in an autosomal dominant pattern and involve an elevated risk for the development of medullary carcinoma of the thyroid.
Targeted genes: (15) AIP, CDC73, CDKN1B, MAX, MEN1, PRKAR1A, PTEN, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL
Source: Emory Genetics Laboratory

Invitae Thyroid Cancer Panel

The Invitae Thyroid Cancer Panel analyzes up to 11 genes that are associated with an increased lifetime risk of developing thyroid cancer. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive hereditary thyroid cancer panel. Many of these genes are also associated with an increased risk of other types of cancer.
In addition to the primary panel, clinicians can also choose to include genes that have limited evidence of association with hereditary thyroid cancer.
Source: Invitae

Thyroid Cancer

Multi Gene Panel (13 Genes)
Targeted genes: APC ATM CHEK2 DICER1 FLCN MEN1 MUTYH PTEN RET SDHB SDHC SDHD STK11
Source: Medical Genetics Center

Thyroid Cancer NGS Panel

Targeted Genes: BRAF, HRAS, KRAS, MUTYH, NRAS, PTEN, RET, SDHB, SDHD, TP53
Source: Fulgent Diagnostics

Thyroid cancer panel, targeted

Tested genes APC, PTEN, RET

Source: Centogene

THYREON-PREDICT™

enetic testing of cold nodules of the thyroid gland at PentaCore Laboratory!
With the aid of the modern diagnostic tools, thyroid nodules can be found in 25-50% of the population. Among the so called “cold” nodules (which do not accumulate radioiodine, i.e. not working), 5-10% are susceptible to malignant transformation. Until now, we were not able to predict which nodule has a greater chance for becoming malignant. The genetic testing developed by the PentaCore Laboratory, at Semmelweis University, Budapest, Hungary, analyzes 10 different genes.

Source: Pentacorelab


Other Tests

CHROMOSOMAL INSTABILITY SYNDROMES NEXTGEN SEQUENCING (NGS) PANEL

This test especially aids in a differential diagnosis of similar phenotypes, rules out particular syndromes, and provides the analysis of multiple genes simultaneously. Individuals who are suspected of any of these disorders, especially if clinical diagnosis is unclear, and individuals who have been found to be negative by mutation analysis for a single gene test are candidates. Laboratory findings that support the diagnosis include: protein levels, chromosome translocations, immunodeficiency, and radiosensitivity demonstrated by in vitro assay. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.
Source: Prevention Genetics

Comprehensive Inherited Bone Marrow Failure Panel

Our Comprehensive Inherited Bone Marrow Failure Panel includes sequence analysis of the following 49 genes: C16orf57, CTC1, DKC1, NOLA3, NHP2, RTEL1, TERC, TERT, WRAP53, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, CSFR3, ELANE, G6PC3, GFI1, HAX1, VPS45, WAS, GATA2, MPL, RBM8A, RUNX1, SBDS, SBF2, SRP72.

Source: The University of Chicago Genetic Services

Endometrial Cancer Panel

Tested genes BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, TP53

Source: GeneDx

Invitae Constitutional Mismatch Repair-Deficiency Panel

This test analyzes the genes associated with constitutional mismatch repair-deficiency (CMMR-D), which is a childhood cancer predisposition syndrome. Individuals who have biallelic pathogenic variants in any one of these genes can develop CMMR-D.
Source: Invitae

Uterine cancer panel, targeted

Tested genes EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN

Source: Centogene

VIVATON™

Testing specific genetic alterations as potential therapeutic targets in malignant tumors: individualized oncotherapy at PentaCore Laboratory!
Before the application of the available drugs – depending on the type of the tumor - three different genes are examined (KRAS, BRAF, EGFR). Besides these genes, there are other known variations that can affect the therapeutic response.

Source: Pentacorelab