KIT Somatic Mutation Testing
Approximately 85% of gastrointestinal stromal tumors (GISTs) and ~8% of acute myeloid leukemia (AML) cases show mutations in KIT gene. In GIST, ~70% of all detected KIT mutations arise in juxtamembrane domain that is encoded by exon 11. On the other hand, ~38.6% of KIT mutations in AML originate in the activation loop of the kinase domain in exon 17. Secondary KIT mutations in resistant clones are
commonly identified in exons 13, 14, 17 and 18.
Centogene offers multiple screening tests for targeted and general screening of mutations in KIT gene.
A. Selective sequencing of exons 8, 9, 11, 13 and 17
Selective sequencing of exons 8, 9, 11, 13 and 17 is sufficient to cover ~85% of all KIT mutations described in GIST and ~40% of all KIT mutations involved in AML. For rapid screening of important somatic mutations in KIT gene, Centogene offers sequencing of the above mentioned exons through Next Generation
Sequencing that allows detection of mutations at allele frequency down to at least 5%.
B. Full gene sequencing
Centogene offers sequencing of complete coding region of KIT gene at an overall coverage of 96% through Next Generation Sequencing where mutations with allele frequency as low as 5% can be confidently
detected in tumor samples.
C. Panel Testing
For general screening of somatic mutations, KIT gene mutations/exon(s) are also a part of broader multi-gene panels like Cancer Hotspots Panel (detects 139 described mutations in KIT gene along with commonly described mutations in 48 other oncogenes), Myeloid Tumor Panel (covers Exons 2, 8-11, 13 and 17 of KIT along with selective targeted regions in 52 other oncogenes and tumor suppressor genes
involved in hematological malignancies) or Solid Tumor Panel (~96.5% of the coding region of KIT gene is covered along with over 95% coverage of coding regions of 61 other tumor related genes) that are readily available on Centogene website.
Please refer to preferred test(s) on our test catalogue or ask our customer relations team for more specific information. We are constantly developing new tests. If your preferred test is not listed on the webpage, please contact us directly. We will be happy to assist you find the best possible solution for your patient.