Analysis of tumors using liquid biopsy

Pancancer Liquid Biopsy

Characteristics:

  • NGS panel and software aimed at the analysis of the main biomarkers of clinical interest in solid tumors.
  • Characterization of ctDNA from liquid biopsy.
  • It allows detecting SNVs, indels, genetic fusions, and CNVs on a single sample with a DNA amount of at least 10 ng.
  • Based on high sensitivity RNA-probe technology with UMI barcoding (unique molecular identifiers).
  • Mean coverage after UMI analysis: 5800X.
  • Bases covered at >200X depth: >99%
  • Specificity, sensitivity, repeatability, and reproducibility results are >99%.
  • Limit of detection for SNVs and indels: 1% VAF, with an extended detection technical capacity up to ~0,1% VAF (outside the clinically validated range).
  • TECHNICAL LIMITATION: A low tumor fraction in the analyzed sample may affect the test’s analytical sensitivity, especially in CNV analysis.
Study requisition form Informed consent form
Steps to follow Request information

Turnaround time (TAT): 14 working days

Ref. S-202516239

Full sequencing
  • 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

Complete sequencing of the coding region of the 56 genes most relevant to clinical practice in adult solid tumours.

Sequencing is also carried out for hotspot regions of the TSC1 and TSC2 genes (36 regions in total), the E17K variant of AKT1, and 7 regions of NTRK1 and NTRK3.

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

Capture of 10 fusion genes with any of their possible rearrangements; therefore, it includes the intronic regions in which breakpoints have most frequently been reported in the literature.

Detection of CNVs across the entire genome (detection of hypo- or hyperploidy), ranging from a single gene included in the panel to large CNVs, including entire arms or chromosomes. Furthermore, this analysis is enhanced by a low-density SNP array, capturing >500 SNPs distributed across the entire genome. This enables both the validation of the results obtained and the detection of alterations where there has been a loss of heterozygosity but the copy number has been neutralised 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

3) Pack the sample

Please pack the sample in a way to prevent leakage

5) Result: the report

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

2) Sample collection

See sample types in the guidelines

4) Send the sample & the request

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

Ask us for more information

Liquid biopsy -Pancancer Liquid Biopsy

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