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
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.
Biomarkers are defined as an objectively measurable and assessable characteristic that work as indicators of normal biological processes, pathogenic processes or a pharmacological response to a therapeutic intervention.
Genomic biomarkers account for clinically relevant alterations in genes associated with cancer development and progression.
Genomic biomarker testing can be performed using pathology or molecular biology tools.
In cancer treatments, there are two genomes that can influence treatment decisions: the cancer patient's genome (germline genome) and the tumor genome (somatic genome).
Hereditary cancer is caused by an inherited genetic mutation. Typically, there is a recurring cancer pattern over two or three generations, such as several individuals diagnosed with the same type of cancer and individuals diagnosed with cancer much younger than average.
Sporadic cancer refers to cancer that occurs due to spontaneous mutations that accumulate over a person's lifetime. Sporadic cancer cannot be explained by a single cause. There are several factors, such as aging, lifestyle or environmental exposure, that may contribute to the development of sporadic cancer.
Our team of molecular biologists, bioinformaticians, pathologists, biotechnologists, oncologists, data scientists, and genomics specialists perform a comprehensive analysis of holistic genomic profiling reports in order to assist physicians in the interpretation of the genomic variants found and in the search for therapeutic options and clinical trials for patient treatment.
Our technology
Equipment
Biomakers bases its genomic information production platform on internationally recognized standards and is capable of meeting its clients' demands with its own equipment achieving an optimal quality in the production of genomic data readings with efficient turnaround times.
Immunohistochemistry and FISH biomarker analyses
Nucleic acid purification and quantitation
Biomarker analysis by real-time PCR and digital PCR
Biomarker analysis by next-generation sequencing (NGS)
Professional assistance available
Our multidisciplinary team includes professionals specialized in genomics, genetics, molecular biology, medicine, oncology, pathology, bioinformatics, among others.
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
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