Tumor panel tests
Pathology: Complete cancer panel
Biomarkers analyzed:
Hotspot genes (35 genes):
AKT1, ALK, AR, BRAF, CDK4, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FGFR2, FGFR3, GNA11, GNAQ, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NRAS, PDGFRA, PIK3CA, RAF1, RET, ROS1, SMO
Copy number genes (19 genes):
AKT1, ALK, AR, BRAF, CCND1, CDK4, CDK6, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, FGFR4, KIT, KRAS, MET, MYC, MYCN, PDGFRA, PIK3CA
Gene fusions (23 genes):
ABL1, AKT3, ALK, AXL, BRAF, EGFR, ERBB2, ERG, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, MET, NTRK1, NTRK2, NTRK3, PDGFRA, PPARG, RAF1, RET, ROS1
Methodology: NGS
Type of sample: Biopsy block
| Test | Pathology | Biomarkers analyzed | Methodology | Type of sample |
|---|
| Lung | ALK - EGFR - ROS1 - PDL1 - BRAF | EGFR, BRAF: Real-time PCR. ALK, PDL1: immunohistochemistry. ROS1: immunohistochemistry and FISH confirmation | Biopsy block |
| CCR | KRAS, NRAS, BRAF | Real-time PCR | Biopsy block |
| Lynch syndrome | Mlh1, Msh2, Msh6, Pms2. | IHC | Biopsy block |
| GIST | Ckit, Pdgfr | Sanger syndrome | Biopsy block |
| Breast cancer | Estrogen, progesterone, HER2, ki67 | IHC | Biopsy block |
| Sarcoma | - | IHC - FISH | Biopsy block |
| Glioblastoma | MGMT, GFAP, Ki67, IDH, ATRX, 1p/19q | IHC - FISH | Biopsy block |
| Cancer | (SNV 88 genes + fusion 3 genes) | NGS | FFPE tissue |
| Cancer | (SNV 170 genes + fusion 25 genes) | NGS | FFPE tissue |
| Breast cancer | APC, APOBEC3A, APOBEC3B, APOBEC3G, ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCC, FANCM, GJB1, GJB2, MEN1, MFN2, MLH1, MPZ, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMP22, PMS2, POLD1, POLE, POU3F4, PRPF31, PRPH2, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RHO, RINT1, RP1, RPGR, SLC26A4, STK11, TECTA, TP53, USH2A, VHL | NGS | FFPE tissue or peripheral blood |
| Inherited diseases | AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RET, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 | NGS | Peripheral blood |
Biomarker tests
At BIOMAKERS, we are convinced that these complex tests will help to achieve great breakthroughs in treatments and patient care, making them more accurate, safe, and efficient, completely improving people's lives.
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| SNV + Indels in exons 18, 19, 20, and 21 | Sanger sequencing | FFPE tissue/Cytology smear | |
| p.T790M Deletions in exon 19 p.L858R, p.L861Q, p.G719A, p.G719C, p.G719S, p.S768I, Insertions in exon 20 | Real-time PCR | FFPE tissue/Cytology smear | |
| p.G719X (p.G719A, p.G719C, and p.G719S) Deletions in exon 19 p.S768I, p.T790M, Insertions in exon 20 p.L858R, p.L861Q | cobas® EGFR Mutation Test v2 | FFPE tissue/Cytology smear/Peripheral blood (for circulating tumor DNA extraction) | |
| p.T790M Deletions in exon 19 p.L858R | Digital PCR | Peripheral blood (for circulating tumor DNA extraction) |
| Fusions | FISH | FFPE tissue | |
| Fusions/Overexpression | Immunohistochemistry | FFPE tissue |
| Mutations in exon 15 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in codon 600 | Real-time PCR | FFPE tissue/Cytology smear | |
| Mutations in codon 600 | Real-time PCR | Peripheral blood (for circulating tumor DNA extraction) |
| SNVs + Indels in exon 20 | Sanger sequencing | FFPE tissue/Cytology smear |
| Overexpression | Immunohistochemistry | FFPE tissue | |
| Fusions | FISH | FFPE tissue |
| SNVs + Indels in exons | Sanger sequencing | FFPE tissue/Cytology smear | |
| Real-time PCR | FFPE tissue/Cytology smear |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| Mutations in exons 2, 3, and 4 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in exons 2, 3, and 4 | Real-time PCR | FFPE tissue/Cytology smear | |
| Mutations in exons 2, 3, and 4 | Real-time PCR | Peripheral blood (for circulating tumor DNA extraction) |
| Mutations in exons 2, 3, and 4 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in exons 2, 3, and 4 | Real-time PCR | FFPE tissue/Cytology smear | |
| Mutations in exons 2, 3, and 4 | Real-time PCR | Peripheral blood (for circulating tumor DNA extraction) |
| Mutations in exon 15 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in codon 600 | Real-time PCR | FFPE tissue/Cytology smear | |
| Mutations in codon 600 | Real-time PCR | Peripheral blood (for circulating tumor DNA extraction) |
| Mutations in exons 1, 4, 7, 9, and 20 | Sanger sequencing | FFPE tissue/Cytology smear | |
| p.R88Q, pN345K, p.C420R, p.E542K, p.E545X, (p.E545A, p.E545D, p.E545G, p.E545K), p.Q546X (p.Q546E, p.Q546K, p.Q546L, p.Q546R), p.M1043I, p.H1047X (p.H1047L, p.H1047R, p.H1047Y), p.G1049R | Sanger sequencing | FFPE tissue/Cytology smear |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| SNVs, indels, CNV | NGS | Peripheral blood (for genomic DNA extraction) | |
| SNVs, indels, CNV | NGS | FFPE tissue/Cytology smear | |
| CNV | MLPA | Peripheral blood (for genomic DNA extraction) |
| Mutations in exons 1, 4, 7, 9, and 20 | Real-time PCR | FFPE tissue/Cytology smear | |
| p.R88Q, pN345K, p.C420R, p.E542K, p.E545X, (p.E545A, p.E545D, p.E545G, p.E545K), p.Q546X (p.Q546E, p.Q546K, p.Q546L, p.Q546R), p.M1043I, p.H1047X (p.H1047L, p.H1047R, p.H1047Y), p.G1049R | Sanger sequencing | FFPE tissue/Cytology smear |
| Overexpression | Immunohistochemistry | FFPE tissue | |
| Amplification | FISH | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| Mutations in exon 15 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in codon 600 | Real-time PCR | FFPE tissue/Cytology smear |
| Mutations in exons 2, 3, and 4 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in exons 2, 3, and 4 | Real-time PCR | FFPE tissue/Cytology smear |
| Mutations in exons 2, 3, and 4 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in exons 2, 3, and 4 | Real-time PCR | FFPE tissue/Cytology smear |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| Mutations in exon 15 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in codon 600 | Real-time PCR | FFPE tissue/Cytology smear |
| Mutations in exons 9, 11, 13, and 17 | Sanger sequencing | FFPE tissue/Cytology smear |
| Mutations in exons 2, 3, and 4 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in exons 2, 3, and 4 | Real-time PCR | FFPE tissue/Cytology smear |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| SNVs: p.R248C, p.S249C, p.G370C, p.Y373C Fusions: FGFR3:TACC3v1 and FGFR3:TACC3v3 | therascreen® FGFR RGQ PCR Kit | FFPE tissue |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| FISH | FFPE tissue |
| Promoter methylation | Methylation/Sanger sequencing | FFPE tissue |
| FISH | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry/Methylation/Sanger sequencing | FFPE tissue |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| Mutations in exons 9, 11, 13, and 17 | Sanger sequencing | FFPE tissue/Cytology smear |
| Mutations in exons 12, 14, and 18 | Sanger sequencing | FFPE tissue/Cytology smear |
| Mutations in exon 15 | Sanger sequencing | FFPE tissue/Cytology smear | |
| Mutations in codon 600 | Real-time PCR | FFPE tissue/Cytology smear |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Overexpression | Immunohistochemistry | FFPE tissue |
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| Lack of expression | Immunohistochemistry | FFPE tissue |
| Lack of expression | Immunohistochemistry | FFPE tissue |
| Lack of expression | Immunohistochemistry | FFPE tissue |
| Lack of expression | Immunohistochemistry | FFPE tissue |
| Lack of expression | Immunohistochemistry | FFPE tissue |
| Microsatellite instability BAT-25, BAT-26, NR-21, NR-24, and MONO-27 | MSI Analysis System (Promega) | FFPE tissue |
Pathology: Complete cancer panel
Biomarkers analyzed:
OFA - Hotspot genes (35 genes):
AKT1, ALK, AR, BRAF, CDK4, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FGFR2, FGFR3, GNA11, GNAQ, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NRAS, PDGFRA, PIK3CA, RAF1, RET, ROS1, SMO
Copy number genes (19 genes):
AKT1, ALK, AR, BRAF, CCND1, CDK4, CDK6, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, FGFR4, KIT, KRAS, MET, MYC, MYCN, PDGFRA, PIK3CA
Gene fusions (23 genes):
ABL1, AKT3, ALK, AXL, BRAF, EGFR, ERBB2, ERG, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, MET, NTRK1, NTRK2, NTRK3, PDGFRA, PPARG, RAF1, RET, ROS1
Methodology: NGS
Type of sample: Biopsy block
| Biomarker | Alteration studied | Analysis methodology | Type of sample |
|---|
| SNVs, indels, CNVs in 342 genes. MSI. TMB | NGS | FFPE tissue |
| SNVs, indels, CNVs in 70 genes. MSI. | NGS | Peripheral blood (for circulating tumor DNA extraction) |
| SNVs, indels, CNVs in >400 genes. MSI. TMB | NGS | Peripheral blood (for genomic DNA extraction) |
| APC, APOBEC3A, APOBEC3B, APOBEC3G, ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCC, FANCM, GJB1, GJB2, MEN1, MFN2, MLH1, MPZ, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMP22, PMS2, POLD1, POLE, POU3F4, PRPF31, PRPH2, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RHO, RINT1, RP1, RPGR, SLC26A4, STK11, TECTA, TP53, USH2A, VHL | NGS | Peripheral blood (for genomic DNA extraction)/FFPE tissue |
| SNV/Indel 88 genes/Fusions (ALK, RET, ROS1) | NGS | FFPE tissue |
| SNV/Indel (170 genes)/Fusions (25 genes) | NGS | FFPE tissue |
| SNV/Indel (546 genes)/Fusions (48 genes) | NGS | FFPE tissue |
Liquid biopsies
| Test | Pathology | Biomarkers analyzed | Methodology | Type of sample |
|---|
| Lung | EGFR | qPCR (Cobas or ddPCR) | Peripheral blood (PAXgene tube) |
| CCR | RAS | qPCR (Cobas or ddPCR) | Peripheral blood (PAXgene tube) |
| Sensitivity to 5-Fu | - | Sensitivity to 5-Fu | Peripheral blood |
| Cancer | SNVs, indels, CNVs in 70 genes. MSI. | NGS | Peripheral blood |
| Inherited diseases | AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RET, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 | NGS | Peripheral blood |
| Breast cancer | APC, APOBEC3A, APOBEC3B, APOBEC3G, ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCC, FANCM, GJB1, GJB2, MEN1, MFN2, MLH1, MPZ, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMP22, PMS2, POLD1, POLE, POU3F4, PRPF31, PRPH2, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RHO, RINT1, RP1, RPGR, SLC26A4, STK11, TECTA, TP53, USH2A, VHL | NGS | FFPE tissue or peripheral blood |
Cancer and biomarkers
Personalized cancer treatment
Cancer is the name given to a collection of related diseases. In all types of cancer, some of the body cells begin to divide non-stop and spread to surrounding tissues.
Cancer can start almost anywhere in the body. Tumors can be malignant, which means they can spread or invade nearby tissues. As tumors grow, some tumor cells can break off and travel to distant parts of the body through the bloodstream or lymphatic system and lead to metastases, that is, new tumors apart from the original tumor.
Unlike malignant tumors, benign tumors do not spread or invade nearby tissues. Benign tumors do not spread or invade nearby tissues.
There are more than 100 types of cancer. Cancer types are usually named after the organs or tissues where they originate.
For example, lung cancer originates in lung cells, and brain cancer originates in brain cells.
Cancers can also be described by the type of cell that originated them, such as an epithelial cell or a squamous cell.
Biomarkers are defined as an objectively measured and assessed characteristic that works as an indicator of normal or pathological processes, or a pharmacological response to a therapeutic intervention (NIH).
The study and analysis of biomarkers is crucial for the correct selection of targeted therapies and immunotherapies in the treatment of cancer.
Between 5% and 10% of all cancers are hereditary, which means that a person may pass on changes (or mutations) in specific genes to their children. People who inherit one of these genetic changes will have a higher risk of developing cancer at some point in their lives. Genetic counseling can help people understand this risk.
Knowing your increased genetic risk allows you to discuss options with your doctor to create a personalized plan designed to prevent or detect cancer at an earlier, more treatable stage.
Precision medicine
The aim of precision medicine in cancer is to define the medical treatment according to the genomic alterations found in patients' tumors.
Genomic alterations can be studied on tumor biopsies or liquid biopsies of the patient using pathology or molecular biology tools.
Currently, one of the pillars of cancer treatment is the use of targeted therapies, which require the testing of genomic biomarkers and measurable or identifiable genetic information that can be used to personalize the use of a drug. Targeted cancer therapies block the growth and spread of cancer by interfering with specific molecules involved in cancer growth, progression, and spread.
Immunotherapies based on the use of monoclonal antibodies which act as immune checkpoint inhibitors, such as PD-1/PD-L1 and CTLA-4, have revolutionized cancer treatment.
The analysis of molecular biology biomarkers, such as microsatellite instability (MSI) and tumor mutational burden (TMB), and of pathologies, such as the expression of PD-L1 in the tumor, makes it possible to study biomarkers for a correct screening of patients to treat them with immunotherapies.
At Biomakers, we are committed to providing top-quality genetic and molecular diagnoses, allowing thousands of patients to be treated with the best available therapies, optimizing result delivery times, using technologies that ensure the highest level of sensitivity and reliability, and helping patients live longer and improve their quality of life.
Biomakers also develops activities that promote the creation and design of new increasingly personalized drugs that will allow millions of patients to benefit from and obtain better therapeutic results.
Perform genetic testing
Questions?
Test my genetic biomarkers
Which biomarkers do we test?
Your doctor may request the analysis of single genes, multigenic panels or proteins whose alterations make it possible to understand the specific characteristics of the tumor and predict its behavior under certain therapies, as well as to diagnose hereditary diseases that increase the incidence of tumors.
How does it work?
Molecular analyses may be requested by your doctor. We will take care of collecting all the necessary documents and biological samples to conduct the study. The biological sample will depend on the biomarker to be analyzed and may range from a small sample of tumor tissue to a blood or saliva sample. Once we have the result, we will send a complete and easily understandable report to your doctor so that they can decide on the best available therapy or clinical action at the right time.
Our certifications
Since 2015, we have a quality management system (QMS) certified according to ISO 9001:2015. This system allows us to ensure high levels of quality in the following processes:
The ISO 9001:2015 certification represents our commitment with quality at every stage of molecular analysis and our proactive search for improvements and innovations that set us apart in the local, national, and international market.
To ensure the quality of our assays, we perform annual external quality assessments organized by institutions such as the European Molecular Genetics Quality Network (EMQN), Genomics Quality Assessment (GenQA), Nordic Immunohistochemical Quality Control (NordiQC), and the College of American Pathologists (CAP).
International biomarker validations
How is my personal information protected?
The safety and privacy of our patients' clinical, genetic, and demographic data is a paramount value for our organization.
In compliance with the national Personal Data Protection Act No. 25,326 of Argentina, we have registered our database of professionals and patients before the Argentine Agency for Access to Public Information (Agencia de Acceso a la Información Pública, AAIP) and we have registered ourselves as responsible for such database.
Contact us
Argentina
Monday through Friday 9:00 AM to 6:00 PM
+54 (11) 4823-0088 / 0800-345-1775
Av. Pueyrredón 1777 Piso 8, Departamento B, Recoleta, Autonomous City of Buenos Aires. CP 1119.
Mexico
Monday through Friday 8:00 AM to 5:00 PM
+52 55 67290851
Blvd Adolfo López Mateos 3395 PB, Colonia Rincón del Pedregal, Delegación Tlalpan, CP 14120, Mexico City
Brazil
Monday through Friday 8:00 AM to 5:00 PM
+55 11 2925-5055
Rua Itapeva, 574, Conjunto 41B e 71B