Oncology

BRCA1 & BRCA2 - sequencing


Introduction: Breast and ovarian cancers are tumors that stand out as they affect many women, manifesting in 10% of cases due to a hereditary cause. About the exam: Study to detect the presence of large deletions or duplications in the BRCA1 gene. This type of variant is usually pathogenic, so they are associated with a higher probability of developing breast and ovarian cancer.
Genes or alleles analized: BRCA1 & BRCA2 Technique used: NGS & MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes, // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 25 business days In case you have any questions, get in touch.




Microsatellites Instability


Introduction: In the DNA there are regions called microsatellites (fragments that are repeated consecutively). If we analyze the microsatellites in the tumor cells and there is a change with respect to the germ cells, we talk about instability and that determines the aggressiveness of the cancer and therefore a therapeutic behavior. About the exam: The study determines the deficiency in the DNA repair by the instability of microsatellites (MSI). The STRs used are the following BAT25, D17S250, D2S123, BAT26 and D5S346. Genes or alleles analized: STRs Technique used: Fragments Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 15 business days In case you have any questions, get in touch.




RET gene - sequencing


Introduction: Study to determine the presence of somatic mutations in codons 12, 13, 59, 61, 117 and 146 of the KRAS and NRAS genes. This determination can be made by Sanger, Snapshot or NGS. The presence of one or more activating mutations is associated with low patient response to monoclonal antibody therapy for EGFR. About the exam: -- Genes or alleles analized: RET Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 25 business days In case you have any questions, get in touch.




Determination of mutations in KRAS, NRAS and BRAF


Introduction: Three different human RAS genes have been identified: KRAS (homologous to the rat sarcoma virus oncogene Kirsten), HRAS (homologous to the rat sarcoma virus oncogene Harvey) and NRAS (first isolated from a human neuroblastoma). About the exam: Study to determine the presence of somatic mutations in codons 12, 13, 59, 61, 117 and 146 of the KRAS and NRAS genes. This determination can be made by Sanger, Snapshot or NGS. The presence of one or more activating mutations is associated with low patient response to monoclonal antibody therapy for EGFR. Genes or alleles analized: Codons 12, 13, 59, 61, 117 and 146 of KRAS and NRAS, BvdAF V600E
Technique used: Snapshot/RT/ NGS/Sanger Sample type: Tumor tissue in paraffin block, 12 cuts of undyed FFPE tissue and one stained with HE and the defined tumor region, Ambient temperature Results delivered in: 10 business days In case you have any questions, get in touch.




Determination of mutations in EGFR


Introduction: The epidermal growth factor receptor (EGFR) belongs to a family of tyrosine kinase receptors (RTK) that include EGFR / ERBB1, HER2 / erbB2 / neu, HER3 / ERBB3, and HER4 / ERBB4. Ligand binding, such as epidermal growth factor (EGF), induces a conformational change that facilitates the formation of the receptor homodimer or heterodimer, resulting in the activation of EGFR tyrosine kinase activity.
About the exam: Study to determine the presence of somatic mutations in exons 18, 19, 20 and 21 of the EGFR gene. Mutations in exons 18, 19 and 21, occasionally in patients with NSCLC, are associated with sensitivity to treatment with EGFR tyrosine kinase inhibitors (ITK). While mutations in exon 20 are associated with resistance to treatment as well as the absence of variants. This determination can be made by Sanger or NGS. Genes or alleles analized: EGFR exons 18, 19, 20 y 21 Technique used: Sanger / NGS Sample type: Tumor tissue in paraffin block, 12 cuts of undyed FFPE tissue and one stained with HE and the defined tumor region, Ambient temperature Results delivered in: 15 business days In case you have any questions, get in touch.




Determination of mutation in BRAF


Introduction: Mutations in BRAF have been implicated in the pathogenesis of several cancers, including melanoma, non-small cell lung cancer, colorectal cancer, papillary thyroid cancer and ovarian cancer (Davies et al., 2002). BRAF mutant has been observed in these cancers, as well as in gliomas and gastrointestinal stromal tumors (GIST). About the exam: The V600E mutation results in an amino acid substitution at position 600 in BRAF, from a valine (V) to a glutamic acid (E). This mutation occurs within the kinase domain activation segment (Figure 1). Approximately 80-90% of the V600 BRAF mutations are V600E (COSMIC, Lovly et al., 2012, Rubinstein et al., 2010)
Genes or alleles analized: BRAF V600E Technique used: Real Time Sample type: Tumor tissue in paraffin block, 12 cuts of undyed FFPE tissue and one stained with HE and the defined tumor region, Ambient temperature Results delivered in: 10 business days In case you have any questions, get in touch.




GIST Panel


Introduction: Stomach cancer is a disease in which malignant (cancerous) cells form in the lining of the stomach. Age, diet and genetic information affect the risk of gastric cancer. About the exam: Studies of complete sequencing of genes: NF1, RET, VHL, SDHA, SDHAB, SDHC, SDHD, SDHAF2, TMEM127, MAX, EPAS1, FH, TP53, CDH-1 and study of large deletions of genes: SDHB, SDHC, SDHD, SDHAF2
Genes or alleles analized: NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, EPAS1, FH, TP53, CDH1 Technique used: NGS & MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: -- In case you have any questions, get in touch.




Retinoblastoma - sequencing


Introduction: Retinoblastoma is a malignant ocular embryonic tumor that develops in the retina and occurs both hereditarily and sporadically. Sporadic forms are always unilateral, while hereditary forms are bilateral in 90% of cases and systematically multifocal. About the exam: Study to determine the presence of variants in the RB1 gene, causing inheritable Retinoblastoma disease. All the exonic regions of the gene and the border intron regions are studied. This disease is of dominant inheritance, which is why the presence of 1 pathogenic variant in the RB1 gene is necessary to confirm the molecular diagnosis of it.
Genes or alleles analized: RB Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 días hábiles In case you have any questions, get in touch.




Von Hippel-Lindau - sequencing


Introduction: Von Hippel-Lindau disease (VHL) is a familial predisposition to cancer syndrome, associated with a variety of benign and malignant tumors, mainly retinal and cerebellar tumors, and spinal hemangioblastoma, renal cell carcinoma (RCC) and pheochromocytoma. About the exam: Study to determine the presence of variants in the VHL gene, which cause Von Hippel-Lindau disease. All the exonic regions of the gene and the border intron regions are studied. This disease is of dominant inheritance, which is why the presence of 1 pathogenic variant in the VHL gene is necessary to confirm the molecular diagnosis of it. Genes or alleles analized: VHL Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




Li-Fraumeni - sequencing


Introduction: The Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease that affects young patients and consists of a predisposition to develop a wide range of tumors. The most characteristic tumors are osteosarcomas, soft tissue sarcomas, breast cancer in young subjects, leukemias / lymphomas, brain tumors and adenocarcinoma; however, any type of tumor can be observed. The risk of developing cancer for a patient with a deleterious mutation in the TP53 gene is 15% at 15 years, 80% for women 50 years of age, and 40%. % for men of the same age. About the exam: Study to determine the presence of variants in the TP53 gene, causing Li-Fraumeni. All the exonic regions of the gene and the border intron regions are studied. Li-Fraumeni is a dominant disease, so the presence of 1 pathogenic variant is necessary to confirm the molecular diagnosis of this disease. The main characteristic is that TP53 is a tumor suppressor gene, which, being altered, makes people very prone to develop cancer at an early age, including osteosarcomas, sarcomas, leukemias, lymphomas, breast cancer, brain tumors, etc. Genes or alleles analized: TP53 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




Lynch syndrome - rearrangements


Introduction: Colon cancer is the second in frequency in women and the third in men in some countries. Up to 7-10% belongs to hereditary colon cancer. One of its most common forms is Lynch Syndrome (Lynch Syndrome). Lynch Syndrome, generates an increased risk to develop various tumors, especially colon cancer with a cumulative risk of 80%, 60% for endometrial cancer, up to 13% for stomach cancer and up to 24% for ovarian cancer. About the exam: Study to detect the presence of large deletions or duplications in the genes MSH2, MLH1 andEPCAM. This type of variant is usually pathogenic and is associated with Lynch Syndrome. Patients who have Lynch syndrome are more likely to develop multiple cancers, including the colon and uterus. Study to detect the presence of large deletions or duplications in the PMS2 gene. These variants are pathogenic and are associated with Lynch Syndrome. Patients who have Lynch syndrome are more likely to develop multiple cancers, including the colon and uterus. Genes or alleles analized: MLH1, MSH2, MSH6 Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Lynch syndrome - sequencing


Introduction: Colon cancer is the second in frequency in women and the third in men in some countries. Up to 7-10% belongs to hereditary colon cancer. One of its most common forms is Lynch Syndrome (Lynch Syndrome). Lynch Syndrome, generates an increased risk to develop various tumors, especially colon cancer with a cumulative risk of 80%, 60% for endometrial cancer, up to 13% for stomach cancer and up to 24% for ovarian cancer. About the exam: Study to detect the presence of variants in the genes MSH2, MLH1, MSH6, PMS2 and MUTYH. All exonic regions of genes and border intron regions are studied. These variants may be pathogenic, non-pathogenic or of uncertain significance. The presence of pathogenic variants in these genes is associated with Lynch Syndrome. Patients who have Lynch syndrome are more likely to develop multiple cancers, including the colon and uterus. Genes or alleles analized: MLH1, MSH2, MSH6, PMS2 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




Familial Adenomatous Polyposis - rearrangements


Introduction: Colon cancer is the second in frequency in women and the third in men in some countries. Up to 7-10% belongs to hereditary colon cancer. One of its most common forms is Familial Adenomatose Polyposis (FAP). About the exam: Study to detect the presence of large deletions or duplications in the MUTYH gene. This type of variant is usually pathogenic. The presence of two pathogenic variants in TRANS in the MUTYH gene are associated with Familial Adenomatose Polyposis. This situation is related to a greater probability of developing colon cancer. Study to detect the presence of large deletions or duplications in the MUTYH gene. This type of variant is usually pathogenic. The presence of two pathogenic variants in TRANS in the MUTYH gene are associated with Familial Adenomatose Polyposis. This situation is related to a higher probability of developing colon cancer. Genes or alleles analized: APC or MUTYH Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Familial Adenomatous Polyposis - sequencing


Introduction: Colon cancer is the second in frequency in women and the third in men in some countries. Up to 7-10% belongs to hereditary type colon cancer. About the exam: Study to detect the presence of variants in APCyMUTYH genes. All exonic regions of genes and border intron regions are studied. These variants may be pathogenic, non-pathogenic or of uncertain significance. The presence of pathogenic variants in the APC gene is associated with Familial Adenomatose Polyposis or Attenuated Familial Adenomatose Polyposis. While the presence of two pathogenic variants in the MUTYH gene is related to polyposis associated with this gene. Either of the two situations mentioned above, are related to a greater likelihood of developing mostly colon cancer.
Genes or alleles analized: APC and MUTYH (MLPA of APC only) Technique used: NGS & MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




BRCA1 and BRCA2 - rearrangements


Introduction: Breast and ovarian cancers are tumors that stand out as they affect many women, manifesting in 10% of cases due to a hereditary cause. About the exam: Study to detect the presence of large deletions or duplications in the BRCA1 gene. This type of variant is usually pathogenic, so they are associated with a higher probability of developing breast and ovarian cancer. Study to detect the presence of large deletions or duplications in the BRCA2 and CHEK2 genes. This type of variant is usually pathogenic, so they are associated with a higher probability of developing breast and ovarian cancer.
Genes or alleles analized: BRCA1, BRCA2 (CHECK2 specific mutation) Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes, // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Hereditary Cancer Panel (Invitae)


Introduction: Hereditary cancer can only explain between 5 and 10% of cancers, repeatedly the genetic consultant finds cases that developed different types of cancer within the family so that making a comprehensive panel of several types can be as much as possible indicated. About the exam: The Invitae hereditary cancer panel analyzes 42 genes associated with cancer of the breast, ovary, uterus and gastrointestinal tract. The panel is designed to maximize the obtaining of results for patients with personal or family history of mixed cancers that affect these mentioned organs.
The genetic study of these genes can confirm the diagnosis and help in the choice of treatment and decision making. The identification of a variant caused by the disease would also help in the diagnosis of relatives at risk. This study is specifically designed for hereditary mutations and is not appropriate for the detection of somatic mutations in tumor tissues. Genes or alleles analized: 42 genes associated with the predisposition of hereditary cancer Technique used: NGS Sample type: Whole blood (purple top-tube), 3.0 mL // Saliva // Germinal DNA Results delivered in: 35 business days In case you have any questions, get in touch.




Hereditary Cancer Panel (Color)


Introduction: Hereditary cancer can only explain between 5 and 10% of cancers, repeatedly the genetic consultant finds cases that developed different types of cancer within the family so that making a comprehensive panel of several types can be as much as possible indicated. About the exam: This panel analyzes 30 genes, including BRCA1 and BRCA2, to help the doctor understand the risk of his patients to develop hereditary cancer; breast, ovarian, colorectal and pancreatic among others.
The study consists of the analysis of 30 genes associated with hereditary cancer risk - BRCA1 and BRCA2 inlcusive, through advanced techniques in molecular genetics, a custom developed bioinformatic software and a team of specialists that allows to have high quality genetic studies at an affordable price. Complete sequencing and study of large genomic rearrangements of the 30 genes is performed.
We also offer genetic counseling to health professionals and their patients, access to our certified specialists, to answer any questions about the studies and their results at no additional cost.
The detection of a high genetic risk allows you to develop a personalized plan with your patients, focusing on the prevention or detection of the disease. Genes or alleles analized: 30 genes associated with the predisposition of hereditary cancer Technique used: NGS Sample type: Saliva Results delivered in: 35 business days In case you have any questions, get in touch.




EndoPredict®


Introduction: Identify the patients who have developed breast cancer more suitable for a chemotherapy-free treatment. About the exam: By studying the activity of eight genes relevant to the course of the disease (BIRC5, UBE2C, DHCR7, RBBP8, IL6ST, AZGP1, MGP and STC2), the clinical data and the number of nodules, EndoPredict® performs a score that determines whether the person has a low risk of a new recurrence and a high chance of avoiding chemotherapy. Genes or alleles analized: BIRC5, UBE2C, DHCR7, RBBP8, IL6ST, AZGP1, MGP and STC2 Technique used: Real Time Sample type: Paraffin Tissue Block Results delivered in: 40 business days In case you have any questions, get in touch.




Comparative Genomic Hybridization


Introduction: The array CGH (also known as molecular karyotype) is a technique used in genetic diagnosis that allows us to analyze the complete genome of an individual in search of alterations of gain or loss of genetic material. About the exam: Comparative genomic hybridization (CGH) is performed by means of an array, it is possible to identify and analyze genetic alterations of the type of gain or loss of genetic material in a DNA sample compared to a reference sample. Genes or alleles analized: -- Technique used: Array Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 45 business days In case you have any questions, get in touch.





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