Solid tumors in adults

Personalized medicine, which aims to help make the best clinical decisions for each patient, requires a broad perspective that integrates the clinical, histological, and molecular aspects of each case.

Molecular studies are highly recommended for the majority of tumors, since they allow determining the diagnosis and prognosis or even guiding towards more efficient and less toxic therapies. To achieve this, it is essential to provide information with a sufficiently proven degree of evidence to be used in clinical decision-making.

Action ST OncoKit has been specifically designed to study adult solid tumors, regardless of their stage or subtype, both at diagnosis and at relapse. It allows detecting genetic markers that are useful to determine diagnosis, prognosis, and sensitivity or resistance to therapies that either are approved by international organizations such as the FDA (Food & Drug Administration) and the EMA (European Medicines Agency) or are currently in their final phases of clinical trial testing.

This panel is designed as a single test that can be performed on DNA from peripheral blood or paraffin-embedded tissue samples to obtain integrated information about different types of actionable biomarkers: SNVs, gene fusions, CNVs, pharmacogenetics-related variants, and microsatellite instability (MSI).

Study requisition form Informed consent form
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Turnaround time (TAT): 12 working days

Ref. S-202009824

Whole sequence (56 genes)
  • ALK
  • ARID1A
  • ATM
  • ATRX
  • BAP1
  • BARD1
  • BRAF
  • BRCA1
  • BRCA2
  • BRIP1
  • CDH1
  • CHEK2
  • CTNNB1
  • EGFR
  • ERBB2
  • ESR1
  • FGFR1
  • FGFR2
  • FGFR3
  • FGFR4
  • GNA11
  • GNAQ
  • H3F3A
  • HIST1H3B
  • HIST1H3H
  • HRAS
  • IDH1
  • IDH2
  • KIT
  • KRAS
  • MAP2K1
  • MET
  • MLH1
  • MSH2
  • MSH6
  • MTOR
  • MYC
  • NRAS
  • PALB2
  • PDGFRA
  • PIK3CA
  • PMS2+5’UTR
  • POLD1
  • POLE
  • PTEN
  • RAD51C
  • RAD51D
  • RB1
  • RET
  • ROS1
  • SDHA
  • SDHB
  • SDHD
  • TERT+5’UTR
  • TP53
  • VHL

Sequencing of the whole coding region of the 56 most relevant genes for clinical practice related to adult solid tumors.

Sequenced regions also include hotspot regions in genes TSC1 and TSC2 (36 regions in total), variant E17K in AKT1, and 7 regions in genes NTRK1 and NTRK3.

  • CYP2D6
  • CYP2C9
  • DPYD
  • MTHFR
  • TPMT
  • UGT1A1

The panel also includes the detection of variants related to patient pharmacogenetics, which is directly involved in the response to chemotherapy treatments. Different alterations that may affect response to treatment of tumors of different origins are tested for in 6 genes.

  • ALK
  • BRAF
  • EGFR
  • ETV6-NTRK3
  • FGFR2
  • FGFR3
  • NTRK1
  • NTRK2
  • ROS1
  • RET

Capture of 10 fusion genes covering all possible rearrangements; to this end, Action ST OncoKit includes those intronic regions where breakpoints have commonly been identified in the literature.

Microsatellite instability (MSI). Microsatellite instability testing (MSI) through a 110-microsatellite panel that allows detecting MSI based on NGS results. MSI testing with this panel corresponds with the Bethesda panel in ›99% of cases.

CNVs (copy number variations): detection of CNVs throughout the whole genome (detection of hypo- and hyperploidias), from a whole gene included in the panel to large CNVs, even encompassing whole chromosome arms or whole chromosomes. Moreover, this test has been improved using a low-density SNP array through the capture of >500 SNPs distributed across the genome. This allows both validating the obtained results and detecting alterations where loss of heterozygosity has occurred but copy number has been neutralized by a duplication (copy-neutral LOH).

Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

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Solid tumors in adults

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