Single-Variant-Specific, Single-Gene-Specific and Panel Diagnostics for Somatic Mutations in Tumors
CENTOGENE's somatic mutation tests are highly sensitive, easy to use, and accurate for identifying even low frequency variants successfully.
Somatic Mutation Testing
Molecular profiling is critical for identifying and characterizing unique somatic variants that accumulate in cancer cells.
We offer analytical tests for somatic variants in tumor tissue that can help to identify diagnostic, prognostic or predictive biomarkers.
Next-generation sequencing is becoming more widely adopted as a valuable method for somatic mutation analysis in cancer. CENTOGENE offers hotspot targeted mutation analysis, selective sequencing of gene regions, single gene sequencing and panel testing for the analysis of dozens of cancer-related genes in parallel.
Overview of single gene tests for somatic mutations
Gene test | Associated cancer types | Test methods available | How to order |
|---|---|---|---|
BRAF | xnon-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small-cell lung carcinoma, and lung adenocarcinoma | a. Hotspot targeted mutation testing* b. Selective sequencing of exon 15 c. Single gene sequencing d. Panel testing | |
| CALR | Myeloproliferative neoplasms, including myelofibrosis, essential thrombocythemia | a. Selective sequencing of exon 9 b. Panel testing | |
| EGFR | Non-small-cell lung cancer | a. Hotspot targeted mutation testing* b. Exons 18-21 testing c. Panel testing
| |
| IDH1 | Lower grade diffuse gliomas (grade II–III), secondary glioblastomas, diagnosed glioblastomas, acute myeloid leukemia (AML), central nervous cancer | a. Selective sequencing of exon 4 b. Single gene sequencing c. Panel testing | |
| IDH2 | Acute myeloid leukemia (AML), gliomas | a. Selective sequencing of exon 4 b. Single gene sequencing c. Panel testing | |
| JAK2 | Acute lymphoblastic leukemia (ALL), polycythemia vera, thrombocythemia and idiopathic myelofibrosis | a. Selective sequencing of exons 12,14 and 16 b. Single gene sequencing c. Panel testing | |
| KIT | Gastrointestinal stromal tumors (GISTs), acute myeloid leukemia (AML) | a. Selective sequencing of exons 8,9,11,13 and 17 b. Single gene sequencing c. Panel testing | |
| KRAS | Colorectal cancer | a. Hotspot targeted mutation testing* b. Single gene sequencing c. Panel testing | |
| NRAS | Colorectal cancer | a. Hotspot targeted mutation testing* b. Single gene sequencing c. Panel testing |
*Note: Hotspot targeted mutation testing is unavailable in the US for the following mutations: BRAF c.1799T>A p.V600E, EGFR c.2573T>G, p.L858R, KRAS c.35G>A, p.G12D, KRAS c.38G>A, p.G13D, KRAS c.35G>T p.G12V, NRAS c.181C>A p.Q61K, NRAS c.34G>T, p.G12C, NRAS c.35G>A, p.G12D, NRAS c.182A>G, p.Q61R.
Resources
Scientific Publications
Mechanistic Insights Into Cancer Predisposition
Genetic predisposition to cancer is tightly linked to an increased rate of somatic mutations. For one of the corresponding syndromes, the underlying defect has now been revealed to affect the DNA […]
Understanding DNA Alterations in Colorectal Cancer
Germline and somatic DNA alterations may cause inherited diseases and/or cancer. While CENTOGENE’s routine diagnostic focus is on the former, we frequently address oncological questions in research […]
Genetic modifiers in hereditary breast cancer
Age at manifestation varies widely in carriers of cancer susceptibility variants. A recent study involving scientists from CENTOGENE suggested that this phenomenon is partially explained by certain […]
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