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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.
Search our test catalogue
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 |
Our portfolio for somatic mutation testing
Single Gene Analysis
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Acute myeloid leukemia, somatic, DNMT3A related
DNMT3A -
BRAF somatic Hotspot: c.1799T>A p.V600E
BRAF -
BRAF, selective sequencing of exon 15
BRAF -
CALR, selective sequencing of exon 9
CALR -
EGFR somatic Hotspot: c.2573T>G, p.L858R
EGFR -
EGFR, selective sequencing of exons 18-21
EGFR -
IDH1, selective sequencing of exon 4
IDH1 -
IDH2, selective sequencing of exon 4
IDH2 -
JAK2, selective sequencing of exons 12, 14 and 16
JAK2 -
KIT, selective sequencing of exons 8, 9, 11, 13 and 17
KIT -
KRAS somatic Hotspot: c.35G>A, p.G12D
KRAS -
KRAS somatic Hotspot: c.35G>T p.G12V
KRAS -
KRAS somatic Hotspot: c.38G>A, p.G13D
KRAS -
KRAS, selective sequencing of exon 2 and 3
KRAS -
Leukemia, acute myelogenous
JAK2 -
Leukemia, acute myelogenous
KRAS -
Leukemia, acute myeloid
KIT -
Leukemia, acute myeloid
RUNX1 -
Leukemia, acute myeloid, somatic
CEBPA -
Leukemia, juvenile myelomonocytic
PTPN11 -
Leukemia, lymphoblastic and myeloid, EZH2 related
EZH2 -
MPL, selective sequencing of exon 10
MPL -
Myelodysplastic syndrome, somatic
TET2 -
Myelofibrosis, somatic
JAK2 -
NPM1, selective sequencing of exon 11
NPM1 -
NRAS somatic Hotspot: c.34G>T, p.G12C
NRAS -
NRAS somatic Hotspot: c.35G>A, p.G12D
NRAS -
NRAS somatic Hotspot: c.181C>A p.Q61K
NRAS -
NRAS somatic Hotspot: c.182A>G, p.Q61R
NRAS -
NRAS, selective sequencing of exons 2 and 3
NRAS -
PDGFRA, selective sequencing of exons 12, 14 and 18
PDGFRA -
PDGFRA, selective sequencing of exons 12, 14 and 18
PDGFRA -
Polycythemia vera, somatic
JAK2 -
Thrombocythemia type 3, somatic
JAK2 -
Squamous cell carcinoma, burn scar-related, somatic
FAS -
Testicular tumor, somatic
STK11 -
Thrombocythemia type 3, somatic
JAK2 -
Thyroid adenoma, hyperfunctioning, somatic
TSHR -
Thyroid carcinoma with thyrotoxicosis
TSHR -
Thyroid carcinoma, follicular, HRAS related, somatic
HRAS -
Thyroid carcinoma, follicular, somatic
NRAS -
Uveal melanoma, GNAQ related, somatic
GNAQ -
Various cancers, DICER1 related, somatic
DICER1 -
Wilms tumor, IGF2 related, somatic
IGF2
*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.
Scientific articles on somatic mutations
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Robustness of Comprehensive DNA- and RNA-Based Assays at Diagnosis of Acute Myeloid Leukemia Using Blood and Bone Marrow Stored on Filter Cards
"Molecular analyses in hematologic malignancies gained considerable importance in the last decade at diagnosis and for minimal residual disease (MRD). In our study, we performed a comparison of state-of-the-art…