IDH1 somatic mutation testing

Mutations in IDH1 gene are frequently observed in lower grade diffuse gliomas (grade II-III), in secondary glioblastomas; and sometimes as well in newly diagnosed glioblastomas. Overall one third of gliomas and ~6.4% of acute myeloid leukemia (AML) cases carry mutations in IDH1 gene. Of all known IDH1 mutations, R132H in exon 4 of IDH1 gene is the most frequently observed point mutation (~85%) and used as a
prognostic marker for central nervous cancer.

Centogene offers multiple screening tests for targeted and general screening of mutations in IDH1 gene.

A. Selective sequencing of exon 4

Over 95% of all IDH1-mutated gliomas and 80% of all IDH1-mutated AML cases show mutations in Arginine at position 132 in exon 4 of IDH1 gene. Based on COSMIC database, prominent mutations at this position include c.395G>A/p.R132H that comprises 87.6% of IDH1 mutations in gliomas. In IDH1 related AML cases, c.394C>T/p.R132C and c.395G>A/p.R132H occur at ~35% and ~25% respectively in IDH1 gene. Other mutations at this position include c.394C>G/p.R132G, c.394C>A/p.R132S, c.395G>T/p.R132L and c.395G>C/p.R132P.

Centogene offers selective sequencing of complete exon 4 of IDH1 through Next Generation Sequencing that can confidently detect mutations at allele frequency down to 5%.

B. Full gene testing

Testing of complete coding region of IDH1 gene at an overall coverage of 99.3% 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, IDH1 gene mutations/exon(s) are also a part of broader multi-gene panels like Cancer Hotspots Panel (detects 15 described mutations in IDH1 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 (~99.3% 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 c.395G>A/p.R132H somatic mutation in IDH1 at >30% 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 IDH1, 73 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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