Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Mutations01:39

Mutations

94.6K
Overview
94.6K
Mutations01:35

Mutations

44.6K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.6K
Next-generation Sequencing03:00

Next-generation Sequencing

98.7K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
98.7K
Viral Mutations00:36

Viral Mutations

39.9K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.5K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.5K
Trial and Error and Algorithm01:12

Trial and Error and Algorithm

429
A problem-solving strategy is a plan of action used to find a solution. Different strategies have distinct action plans. Trial and error involves trying different solutions until one works. For instance, to fix a broken printer, you might check ink levels, ensure the paper tray isn't jammed, and verify the printer's connection to your laptop. This method can be time-consuming but is commonly used. Thomas Edison, for example, used trial and error to find a suitable filament for the light...
429

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Supernatant: What's in a name?

Cancer cytopathology·2026
Same author

Advances in early-stage lung cancer patients: from preanalytics to molecular analysis.

Critical reviews in oncology/hematology·2026
Same author

Next-generation sequencing using a targeted gene panel in advanced solid tumors: five years of experience from an Italian referral institution.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·2026
Same author

Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study.

Pathologica·2026
Same author

Exploring genomic analysis and methylome profiling in longitudinal series of p.G12C KRAS mutated NSCLC patients treated with sotorasib.

The journal of liquid biopsy·2026
Same author

Beyond Blood: Liquid biopsy assays for nonplasma body fluids.

Surgical pathology clinics·2026
Same journal

HER2-low as a unique subgroup in breast cancer: insights from neoadjuvant chemotherapy response and survival analysis.

Journal of clinical pathology·2026
Same journal

Polyp-forming Dieulafoy lesion of the rectum.

Journal of clinical pathology·2026
Same journal

Defining biochemical, pathological and molecular factors prognostic in terms of disease control and survival in high-grade extremity soft tissue sarcoma: a scoping review.

Journal of clinical pathology·2026
Same journal

MILGDF: a multi-task, instance-level supervised model for oral squamous cell carcinoma integrating local-global attention and dynamic decision fusion.

Journal of clinical pathology·2026
Same journal

Paediatric B-lymphoblastic leukaemia with low peripheral blasts: a potential diagnostic pitfall.

Journal of clinical pathology·2026
Same journal

MRI-targeted versus systematic needle core biopsies in prostate cancer: a patient-based analysis of potential diagnostic and biologic underestimation.

Journal of clinical pathology·2026
See all related articles

Related Experiment Video

Updated: Feb 10, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.4K

Idylla assay and next generation sequencing: an integrated EGFR mutational testing algorithm.

Caterina De Luca1, Alessandra G Rappa2, Gianluca Gragnano1

  • 1Department of Public Health, University of Naples Federico II, Naples, Italy.

Journal of Clinical Pathology
|May 26, 2018
PubMed
Summary
This summary is machine-generated.

The Idylla system offers rapid epidermal growth factor receptor (EGFR) genotyping for non-small cell lung cancer, especially when next-generation sequencing (NGS) fails. It accurately confirms NGS results and processes invalid NGS cases effectively.

Keywords:
EGFRIdyllaNGSlung cancerpredictive biomarkers

More Related Videos

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation
15:05

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation

Published on: May 20, 2020

9.3K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.1K

Related Experiment Videos

Last Updated: Feb 10, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.4K
Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation
15:05

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation

Published on: May 20, 2020

9.3K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.1K

Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genetics

Background:

  • Next-generation sequencing (NGS) is the recommended initial molecular testing for non-small cell lung cancer (NSCLC) predictive biomarkers.
  • NGS can yield invalid results due to library preparation failure or insufficient amplicon coverage in a significant subset of NSCLC cases.
  • Alternative rapid genotyping methods are needed for NSCLC cases with invalid NGS results.

Purpose of the Study:

  • To evaluate the Idylla system as a viable option for rapid epidermal growth factor receptor (EGFR) genotyping in NSCLC.
  • To compare the performance of the Idylla assay with NGS for EGFR mutational status in archival NSCLC DNA samples.
  • To assess the utility of Idylla in cases where NGS testing for EGFR mutations is invalid.

Main Methods:

  • Retrospective analysis of 68 archival DNA samples from NSCLC patients previously tested by Ion Torrent NGS.
  • Samples included 43 with valid NGS results (24 EGFR mutant) and 25 with invalid NGS results.
  • All samples were retested using the Idylla EGFR assay.

Main Results:

  • Idylla confirmed EGFR mutational status in 100% (24/24) of cases with valid NGS results.
  • The Idylla assay successfully processed 80% (20/25) of cases with invalid NGS results.
  • Idylla detected actionable EGFR mutations in 16% (4/25) of cases with initially invalid NGS results.

Conclusions:

  • The Idylla assay is a valuable tool for rapid EGFR genotyping in NSCLC.
  • Idylla provides a reliable alternative for cases where NGS testing fails or is inconclusive.
  • This method can expedite the identification of actionable EGFR mutations in NSCLC patients.