IDH2 Somatic Mutation Testing

Mutations in IDH2 gene are frequently observed in acute myeloid leukemia (AML) cases and to a lower
extent also in gliomas. Overall, ~9.1% of AML cases and 1.7% of glioma cases carry mutations in IDH2 gene. Almost all IDH2 mutations occur in exon 4.

Centogene offers multiple screening tests for targeted and general screening of mutations in IDH2 gene.

A. Selective sequencing of exon 4

IDH2-mutated AML cases show mutations in Arginine at position 140 in exon 4 of IDH2 gene. On the other hand, Arginine at position 172 is the most frequently mutated amino acid in IDH2-mutated gliomas. In AML, frequent IDH2 mutations include c.419G>A/p.R140Q and c.515G>A/p.R172K that occur at ~74.8% and ~20.9% respectively, while c.515G>A/p.R172K and c.515G>T/p.R172M occur at 58.2% and 19.1%
respectively in all IDH2-mutated gliomas.

For rapid and comprehensive screening of all R140 and R172 mutations in IDH2 gene, Centogene offers
selective sequencing of complete exon 4 of IDH2 through Next Generation Sequencing that can confidently detect mutations at allele frequency down to 5%.

B. Full gene sequencing

Testing of complete coding region of IDH2 gene at an overall coverage of 97.7% is offered through Next Generation Sequencing that can detect mutations at allele frequency as low as 5% in tumor samples.

C. Panel Testing

For general screening of somatic mutations, IDH2 gene mutations/exon(s) are also a part of broader multi-gene panels like Cancer Hotspots Panel (detects 12 described mutations in IDH2 gene along with commonly described mutations in 49 other oncogenes), Myeloid Tumor Panel (covers Exon 4 of IDH1 gene along with selective targeted regions in 53 other oncogenes and tumor suppressor genes involved in
hematological malignancies) or Solid Tumor Panel (~97.7% of the coding region of IDH1 gene is covered along with over 95% coverage of coding regions of 61 other tumor related genes) that are readily available on
Centogene website.

D. Microarray testing

Detection of two important somatic mutations (c.419G>A/p.R140Q and c.515G>A/p.R172K) in IDH2 at >20% allele frequency is also supported by our CentoArrayOnco where one can combine detection of
selective actionable somatic mutations with copy number variations across 900 oncogenes and tumor
related genes in tumor samples. This array includes apart from IDH2, 72 mutations in 8 other oncogenes.

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.

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