Oncology
It is estimated that up to 15% of all tumors are hereditary, i.e., they are the result of germline mutations in specific genes that increase the susceptibility to cancer.
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DG Hereditary Cancer I: 204 genes
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Cancer is a disorder of cell proliferation caused by genetic alterations. About 15% of all tumors are hereditary in nature; that is, they result from germline variants in specific genes that increase the risk of developing certain types of tumors. These variants can be passed down among family members according to different patterns of inheritance. Genetic testing for hereditary cancer is essential for selecting the most appropriate treatment and clinical management for the patient and enables the implementation of necessary tools for early detection and prevention in carrier relatives.
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Gynecological Tumors I: 1 study
DG Breast and Ovarian Cancer (34 genes)
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Colorectal tumors I 1 study
Colorectal Cancer DG (33 genes)
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Gastric tumors I 2 studies
DG Gastric Cancer (22 genes)
DG Pancreatic Cancer (17 genes)
ATM, BRCA1, BRCA2, CDK4, CDKN2A, KRAS, MLH1, MSH2, MSH6, PALB2, PALLD, PMS2, PRSS1, RABL3, STK11, SMAD4, TP53.
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Genitourinary Tumors I: 2 studies
Kidney cancer accounts for approximately 3% of all tumors in the body. Although most cases are sporadic, there are hereditary syndromes that increase the risk of developing this disease. Prostate cancer is a genetically heterogeneous disease, and germline variants have been identified in approximately 10–15% of patients. We approach the study of both types of neoplasms using targeted exome sequencing specific to each.
DG Renal Cancer (13 genes)
DG Prostate Cancer (25 genes)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Endocrine Tumors I: 1 study
DG Endocrine Cancer (39 genes)
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Skin Cancer I 1 study
Among skin cancers, melanoma is the most aggressive subtype. This targeted exome analysis examines genes associated with a predisposition to developing melanoma, including the CDKN2A gene, which is implicated in approximately 20–40% of familial cases, as well as other genes linked to various types of skin cancer.
DG Skin Cancer (38 genes)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Cancer predisposition syndromes I: 5 studies
Hereditary retinoblastoma (single-gene)
Li-Fraumeni syndrome (2 genes)
Gorlin syndrome (2 genes)
Peutz-Jeghers Syndrome (1 gene)
Xeroderma Pigmentosum (9 genes)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days