Biomarker testing for cancer treatment is a way to look for genes, proteins, and other biomarkers that can provide information about your specific cancer. This can help you and your doctor choose the best cancer treatment for you. Learn more about biomarker testing and how it's being used to diagnose and treat cancer.
In a new study, an experimental blood test identified cancers for which there are recommended screening tests and other cancer types for which no screening tests exist.
Image by National Cancer Institute
What Is Biomarker Testing?
Your Biomarkers Small & Large
Image by TheVisualMD
Your Biomarkers Small & Large
When it comes to evaluating a person's health, doctors use a wide variety of tests and measurements called biomarkers. These can range from simple readings such as blood pressure to sophisticated genetic analyses. In between are dozens of tests performed on blood, urine, and other samples that can diagnose disease, measure damage, and collect information about the function of every organ in the body, from lungs and liver to bones and bowels. Biomarkers can provide a snapshot of a person's health, but their real power is seen when they track the course of change over time. By enabling individuals to follow the components of their health, biomarkers can chart the direction of wellness and provide benchmarks for personal health goals.
Image by TheVisualMD
What Is Biomarker Testing for Cancer Treatment?
Biomarker testing is a way to look for genes, proteins, and other substances (called biomarkers or tumor markers) that can provide information about cancer. Each person’s cancer has a unique pattern of biomarkers. Some biomarkers affect how certain cancer treatments work. Biomarker testing may help you and your doctor choose a cancer treatment for you.
There are also other kinds of biomarkers that can help doctors diagnose and monitor cancer during and after treatment.
Biomarker testing is for people who have cancer. People with solid tumors and people with blood cancer can get biomarker testing.
Biomarker testing for cancer treatment may also be called:
tumor testing
tumor genetic testing
genomic testing or genomic profiling
molecular testing or molecular profiling
somatic testing
tumor subtyping
A biomarker test may be called a companion diagnostic test if it is paired with a specific treatment.
Biomarker testing is different from genetic testing that is used to find out if someone has inherited mutations that make them more likely to get cancer. Inherited mutations are those you are born with. They are passed on to you by your parents.
Source: National Cancer Institute (NCI)
Additional Materials (5)
For Cancer Patients, Biomarkers Matter
Video by Cholangiocarcinoma Foundation/YouTube
Biomarker Testing
Video by Merck/YouTube
Biomarker testing and the future of cancer care
Video by The Leukemia & Lymphoma Society of Canada/YouTube
The interpretation of cancer biomarker test results
Video by OncoDNA SA/YouTube
Your Laboratory Exams, Your Lab Biomarkers
Image by TheVisualMD
3:23
For Cancer Patients, Biomarkers Matter
Cholangiocarcinoma Foundation/YouTube
1:36
Biomarker Testing
Merck/YouTube
1:20:19
Biomarker testing and the future of cancer care
The Leukemia & Lymphoma Society of Canada/YouTube
2:20
The interpretation of cancer biomarker test results
OncoDNA SA/YouTube
Your Laboratory Exams, Your Lab Biomarkers
TheVisualMD
How Are Biomarker Tests Used?
Cancer pharmacogenomics
Image by Alejoaguia
Cancer pharmacogenomics
Aspects of cancer pharmacogenomics include the consideration of the tumor genome and the germline genome
Image by Alejoaguia
How Are Biomarker Tests Used to Select Cancer Treatment?
Biomarker tests can help you and your doctor select a cancer treatment for you. Some cancer treatments like targeted therapies and immunotherapies may only work for people whose cancers have certain biomarkers.
Using information from biomarker tests to help choose a person’s cancer treatment is often called precision medicine.
For example, people with cancer that has certain genetic changes in the EGFR gene can get treatments that targets those changes, called EGFR inhibitor. In this case, biomarker testing can find out whether someone’s cancer has an EGFR gene change that can be treated with an EGFR inhibitor.
Biomarker testing could also help you find a study of a new cancer treatment (a clinical trial) that you may be able to join. Some studies enroll people based on the biomarkers in their cancer, instead of where in the body the cancer started growing. These are sometimes called basket trials.
For some other clinical trials, biomarker testing is part of the study. For example, studies like NCI-MATCH and NCI-COG Pediatric MATCH are using biomarker tests to match people to treatments based on the genetic changes in their cancers.
Source: National Cancer Institute (NCI)
Additional Materials (2)
Cancer biomarker figure
Diagram of questions that can be answered by cancer biomarkers
Image by K.go2011/Wikimedia
Guide to cancer biomarkers
Video by Abcam/YouTube
Cancer biomarker figure
K.go2011/Wikimedia
2:38
Guide to cancer biomarkers
Abcam/YouTube
Should I Get Biomarker Testing?
How Do Genetic Changes Affect Cancer Treatment?
Image by National Cancer Institute (NCI)
How Do Genetic Changes Affect Cancer Treatment?
Each person's cancer has a unique combination of genetic changes. Specific genetic changes may make a person's cancer more or less likely to respond to certain treatments.
Image by National Cancer Institute (NCI)
Should I Get Biomarker Testing to Select Cancer Treatment?
Talk with your health care provider to discuss whether biomarker testing for cancer treatment should be part of your care. Doctors usually suggest genomic biomarker testing (also called genomic profiling) for people with cancer that has spread or come back after treatment (what’s called advanced cancer).
Biomarker testing is also done routinely to select treatment for people who are diagnosed with certain types of cancer—including non-small cell lung cancer, breast cancer, and colorectal cancer.
Source: National Cancer Institute (NCI)
Additional Materials (2)
Baseline Trends
The Human Genome Project will continue to loom large in our medical futures. But new developments and breakthroughs in genetics will be accompanied (and complemented) by innovation across a wide spectrum of medical technologies.
Image by TheVisualMD
Cancer Biomarkers in the Era of Personalised Medicines
Video by ecpcTV/YouTube
Baseline Trends
TheVisualMD
4:09
Cancer Biomarkers in the Era of Personalised Medicines
ecpcTV/YouTube
How Is It Done?
DNA methylation signature in tumor DNA
Image by Darryl Leja, NHGRI
DNA methylation signature in tumor DNA
NIH researchers have identified a DNA methylation signature in tumor DNA common to five types of cancer. The signature results from a chemical modification of DNA called methylation, which can control the expression of genes like a dimmer on a light switch. They hope this finding will spur development of a blood test that can be used to diagnose a variety of cancers at early stages.
Image by Darryl Leja, NHGRI
How Is Biomarker Testing Done?
If you and your health care providers decide to make biomarker testing part of your care, they will take a sample of your cancer cells. If you have a solid tumor, they may take a sample during surgery. If you aren’t having surgery, you may need to have a biopsy of your tumor.
If you have blood cancer or are getting a biomarker test known as a liquid biopsy, you will need to have a blood draw. You might get a liquid biopsy test if you can’t safely get a tumor biopsy, for example, because your tumor is hard to reach with a needle.
Your samples will be sent to a special lab where they will be tested for certain biomarkers. The lab will create a report that lists the biomarkers in your cancer cells and if there are any treatments that might work for you. Your health care team will discuss the results with you to decide on a treatment.
For some biomarker tests that analyze genes, you will also need to give a sample of your healthy cells. This is usually done by collecting your blood, saliva, or a small piece of your skin. These tests compare your cancer cells with your healthy cells to find genetic changes (called somatic mutations) that arose during your lifetime. Somatic mutations cause most cancers and can’t be passed on to family members.
Source: National Cancer Institute (NCI)
Additional Materials (4)
Healthy Cells and Cancer Cells
Healthy Cells and Cancer Cells : For decades, the frustration among cancer patients as well as their doctors was that cancer was nearly always identified "too late" and that the cancer "had already spread." For patients who had already developed symptoms, the discouraging message seemed to be, "if only it had been detected earlier, there might have been some hope of effective treatment."
Image by TheVisualMD
Precision Medicine: Biomarker Testing
Video by Cancer Support Community/YouTube
How to Test for Lung Cancer Biomarkers
Video by American Lung Association/YouTube
What Are Biomarkers And Why Are They Important?
Video by U.S. Food and Drug Administration/YouTube
Healthy Cells and Cancer Cells
TheVisualMD
6:12
Precision Medicine: Biomarker Testing
Cancer Support Community/YouTube
2:16
How to Test for Lung Cancer Biomarkers
American Lung Association/YouTube
2:05
What Are Biomarkers And Why Are They Important?
U.S. Food and Drug Administration/YouTube
Are There Different Types?
Liquid Biopsy
Image by National Cancer Institute (NCI)
Liquid Biopsy
Liquid Biopsy Description: Liquid biopsy is a noninvasive technique that can detect disease biomarkers in blood, urine, and sputum.
Image by National Cancer Institute (NCI)
Are There Different Types of Biomarker Tests?
Yes, there are many types of biomarker tests that can help select cancer treatment. Most biomarker tests used to select cancer treatment look for genetic markers. But some look for proteins or other kinds of markers.
Some tests check for one certain biomarker. Others check for many biomarkers at the same time and may be called multigene tests or panel tests. One example is the Oncotype DX test, which looks at the activity of 21 different genes to predict whether chemotherapy is likely to work for someone with breast cancer.
Some tests are for people with a certain type of cancer, like melanoma. Other tests look for biomarkers that are found in many cancer types, and such tests can be used by people with different kinds of cancer.
Some tests, called whole-exome sequencing, look at all the genes in your cancer. Others, called whole-genome sequencing, look at all the DNA (both genes and outside of genes) in your cancer.
Still other biomarker tests look at the number of genetic changes in your cancer (what’s known as tumor mutational burden). This information can help figure out if a type of immunotherapy known as immune checkpoint inhibitors may work for you.
Biomarker tests known as liquid biopsies look in blood or other fluids for biomarkers from cancer cells. There are two liquid biopsy tests approved by the Food and Drug Administration (FDA), called Guardant360 CDx and FoundationOne Liquid CDx.
Source: National Cancer Institute (NCI)
Additional Materials (2)
Liquid Biopsy
Liquid biopsies of blood, urine and sputum is a new, noninvasive technique to detect disease biomarkers. This image is part of the NCI Annual Plan and Budget Proposal FY2019 collection.
See also http://www.cancer.gov/about-nci/budget/plan.
Image by National Cancer Institute (NCI)
Liquid biopsy
Video by European Society for Medical Oncology/YouTube
Liquid Biopsy
National Cancer Institute (NCI)
5:03
Liquid biopsy
European Society for Medical Oncology/YouTube
Cytogenetic Analysis
Cytogenetic Analysis
Also called: Cytogenetic Testing, Cytogenetics, Cytometric Flow Analysis
Cytogenetic analysis is a test in which the chromosomes of cells in a sample of blood or bone marrow are counted and checked for any changes, such as broken, missing, rearranged, or extra chromosomes. The test is used to help diagnose a genetic disorder or certain types of cancer, plan and monitor treatment.
Cytogenetic Analysis
Also called: Cytogenetic Testing, Cytogenetics, Cytometric Flow Analysis
Cytogenetic analysis is a test in which the chromosomes of cells in a sample of blood or bone marrow are counted and checked for any changes, such as broken, missing, rearranged, or extra chromosomes. The test is used to help diagnose a genetic disorder or certain types of cancer, plan and monitor treatment.
PDQ® Adult Treatment Editorial Board. PDQ Acute Myeloid Leukemia Treatment. Bethesda, MD: National Cancer Institute. [accessed on Feb 18, 2022]
510999: Chromosome Analysis, Leukemia/Lymphoma | Labcorp [accessed on Feb 18, 2022]
Ozkan E, Lacerda MP. Genetics, Cytogenetic Testing And Conventional Karyotype. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. [accessed on Feb 18, 2022]
Cytogenetic Analysis | NewsMedical [accessed on Feb 18, 2022]
Additional Materials (1)
Genomic Education Module (GEM): Cytogenetic Tests
Video by UC Davis MIND Institute/YouTube
3:43
Genomic Education Module (GEM): Cytogenetic Tests
UC Davis MIND Institute/YouTube
FISH Test
FISH Test
Also called: Fluorescence In Situ Hybridization, FISH, FISH Test for Cancer, FISH Study
Fluorescence in situ hybridization (FISH) is a laboratory technique used to detect and locate a specific DNA sequence on a chromosome. It is utilized to diagnose genetic diseases, gene mapping, and identification of chromosomal abnormalities, and may also be used to study comparisons among the chromosomes' arrangements of genes.
FISH Test
Also called: Fluorescence In Situ Hybridization, FISH, FISH Test for Cancer, FISH Study
Fluorescence in situ hybridization (FISH) is a laboratory technique used to detect and locate a specific DNA sequence on a chromosome. It is utilized to diagnose genetic diseases, gene mapping, and identification of chromosomal abnormalities, and may also be used to study comparisons among the chromosomes' arrangements of genes.
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Use the slider below to see how your results affect your
health.
Your result is Normal.
A normal FISH study indicates the amount of cells counted and analyzed and that no gene rearrangements were observed.
Related conditions
Fluorescence in situ hybridization (abbreviated FISH) is a laboratory technique used to detect and locate a specific DNA sequence on a chromosome. In this technique, the full set of chromosomes from an individual is affixed to a glass slide and then exposed to a “probe”—a small piece of purified DNA tagged with a fluorescent dye. The fluorescently labeled probe finds and then binds to its matching sequence within the set of chromosomes. With the use of a special microscope, the chromosome and sub-chromosomal location where the fluorescent probe bound can be seen.
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specific genes or portions of genes. This may be used for understanding a variety of chromosomal abnormalities and other genetic mutations.
FISH is useful, for example, to help a researcher or clinician identify where a particular gene falls within an individual's chromosomes. The first step is to prepare short sequences of single-stranded DNA that match a portion of the gene the researcher is looking for. These are called probes. The next step is to label these probes by attaching one of a number of colors of fluorescent dye.DNA is composed of two strands of complementary molecules that bind to each other like chemical magnets. Since the researchers' probes are single-stranded, they are able to bind to the complementary strand of DNA, wherever it may reside on a person's chromosomes. When a probe binds to a chromosome, its fluorescent tag provides a way for researchers to see its location.
Scientists use three different types of FISH probes, each of which has a different application:
Locus specific probes bind to a particular region of a chromosome. This type of probe is useful when scientists have isolated a small portion of a gene and want to determine on which chromosome the gene is located, or how many copies of a gene exist within a particular genome.
Alphoid or centromeric repeat probes are generated from repetitive sequences found in the middle of each chromosome. Researchers use these probes to determine whether an individual has the correct number of chromosomes. These probes can also be used in combination with "locus specific probes" to determine whether an individual is missing genetic material from a particular chromosome.
Whole chromosome probes are actually collections of smaller probes, each of which binds to a different sequence along the length of a given chromosome. Using multiple probes labeled with a mixture of different fluorescent dyes, scientists are able to label each chromosome in its own unique color. The resulting full-color map of the chromosome is known as a spectral karyotype. Whole chromosome probes are particularly useful for examining chromosomal abnormalities, for example, when a piece of one chromosome is attached to the end of another chromosome.
For many applications, FISH has largely been replaced by the use of microarrays. However, FISH remains useful for some tests. FISH may also be used to study comparisons among the chromosomal arrangements of genes across related species.
Fluorescence In Situ Hybridization Fact Sheet | National Human Genome Research Institute (NHGRI) [accessed on Feb 19, 2022]
Fluorescence In Situ Hybridization (FISH). Genome.gov [accessed on Feb 19, 2022]
PDQ® Adult Treatment Editorial Board. PDQ Chronic Myelogenous Leukemia Treatment. Bethesda, MD: National Cancer Institute. [accessed on Feb 19, 2022]
510669: Fluorescence in situ Hybridization (FISH), Oncology | Labcorp [accessed on Feb 19, 2022]
Blood Work | How This Provides Clues On Your Health | Leukemia & Lymphoma Society® (LLS) [accessed on Feb 18, 2022]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (41)
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
Fluorescence in situ hybridization (abbreviated FISH) is a laboratory technique used to detect and locate a specific DNA sequence on a chromosome. In this technique, the full set of chromosomes from an individual is affixed to a glass slide and then exposed to a “probe”—a small piece of purified DNA tagged with a fluorescent dye. The fluorescently labeled probe finds and then binds to its matching sequence within the set of chromosomes. With the use of a special microscope, the chromosome and sub-chromosomal location where the fluorescent probe bound can be seen.
Image by National Human Genome Research Institute
HER2 FISH on Breast Cancer
HER2 FISH on Breast Cancer
Image by Anistalista
Indian Muntjac fibroblast cells
Indian Muntjac cultured cells; DAPI nuclei, Alexa Fluor 488 Phalloidin actin, Mitotracker Red CMXRos; 63x/1.4. Imaged with ZEISS ApoTome.2, Axiocam 702 mono and Axio Imager www.zeiss.com/axiocam Sample courtesy of Michael W. Davidson, Florida State University
Image by ZEISS Microscopy/Flickr
Aspergillosis
Under a magnification of 562X, this photomicrograph, stained using a fluorescent antibody (FA) staining technique, and NOT stained using a Candida conjugate, revealed the presence of Aspergillus sp. organisms, in a case of aspergillosis.
Image by CDC/ Dr. William Kaplan
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3 Detected by Interspecies cDNA aCGH - journal.pbio.0020207.g003
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3 Detected by Interspecies cDNA array CGH
(A) Human duplication of a cluster of genes at Chromosome 5q13.3. is shown by two separate, and sometimes multiple, red BAC probe (CTD-2288G5) signals in interphase cells, with only one green BAC probe signal (RP11-1077O1) for a flanking region. Metaphase FISH shows both probes at band 5q13. The third nucleus in (A) shows four signals of the control probe (green) and eight copies of the BAC probe duplicated in the aCGH assay, consistent with the pattern expected in an S/G2 nucleus.
(B–E) Bonobo (B), chimpanzee (C), gorilla (D), and orangutan (E) interphase FISH studies all show no increased signal for the human duplicated gene cluster, with signals of comparable size for the CTD-2288G5 (red) and the flanking RP11-107701 (green) probes. Metaphase FISH analyses show the gene cluster to be in the p arm of Chromosomes 4 (corresponding to the human Chromosome 5) in both the bonobo and chimpanzee, in the q arm of Chromosome 4 (corresponding to the human Chromosome 5) in the orangutan, and in the p arm of the gorilla Chromosome 19 (syntenic regions to human Chromosomes 5 and 17).
doi:10.1371/journal.pbio.0020207.g003
Image by Fortna, A.; Kim, Y.; MacLaren, E.; Marshall, K.; Hahn, G.; Meltesen, L.; Brenton, M.; Hink, R.; Burgers, S.; Hernandez-Boussard, T.; Karimpour-Fard, A.; Glueck, D.; McGavran, L.; Berry, R.; Pollack, J.; Sikela, J. M./Wikimedia
FISH (Fluorescent In Situ Hybridization)
Scheme of the principle of the FISH (Fluorescent in situ hybridization) Experiment to localize a gene in the nucleus.
Image by MrMatze/Wikimedia
FISH for Bacterial Pathogen Identification
This figure outlines the process of fluorescence in situ hybridization (FISH) used for bacterial pathogen identification. First, a sample of the infected tissue is taken from the patient. Then an oligonucleotide that is complementary to the suspected pathogen’s genetic code is synthesized and chemically tagged with a fluorescent probe. The collected tissue sample must then be chemically treated in order to make the cell membranes permeable to the fluorescently tagged oligonucleotide. After the tissue sample is treated, the tagged complementary oligonucleotide is added. The fluorescently tagged oligonucleotide will only bind to the complementary DNA of the suspected pathogen. If the pathogen is present in the tissue sample, then the pathogen’s cells will glow/fluoresce after treatment with the tagged oligonucleotide. All other cells will not glow after treatment.
Image by Pepetps
Togopic
Ivan Akira
Magnus Manske
Timothy W. Ford/Wikimedia
Results of in situ hybridization of chromosome X and Y BAC probes
Results of in situ hybridization of chromosome X and Y BAC probes. (A) Dual color hybridization showing highly specific signals on the X (red) and Y (green) chromosomes in metaphase cells. The two diploid interphase cell nuclei from a normal male donor show the expected pair of single signals. (B) The approximate locations of the hybridization targets shown along ideograms of the human X and Y chromosomes.
Image by Joanne H. Hsu, Hui Zeng, Kalistyn H. Lemke, Aris A. Polyzos, Jingly F. Weier, Mei Wang, Anna R. Lawin-O’Brien, Heinz-Ulrich G. Weier and Benjamin O’Brien/Wikimedia
Hordeum vulgare stained by fluorescent in situ hybridization
Staining of chromosome Hordeum vulgare by Fluorescent in situ hybridization (FISH)
Image by Karol007 and Marcello002/Wikimedia
FISH versus CISH Detection
Fluorescence in situ hybridization versus chromogenic in situ hybridization
Image by Escott16/Wikimedia
FISH (technique)
Fluorescent in-situ hybridization is a process which vividly paints chromosomes or portions of chromosomes with fluorescent molecules. This technique is useful for identifying chromosomal abnormalities and for gene mapping.
Image by Thomas Ried/Wikimedia
Results of in situ hybridization of a chromosome 16 BAC probe
Results of in situ hybridization of a chromosome 16 BAC probe on metaphase spreads of ‘normal’ cells. (A) The dual color FISH results showing a normal diploid metaphase spread. The DAPI DNA counterstain is shown in gray; (B) Schematic diagram illustrating the relative positions of the chromosome 16 whole chromosome painting probe (Coatasome-16, Oncor) and the biotinylated DNA repeat probe prepared from BAC RP11-486E19 (detected with avidin-FITC, green).
Image by Joanne H. Hsu, Hui Zeng, Kalistyn H. Lemke, Aris A. Polyzos, Jingly F. Weier, Mei Wang, Anna R. Lawin-O’Brien, Heinz-Ulrich G. Weier and Benjamin O’Brien/Wikimedia
FISH human lymphocyte nucleus stained with DAPI with chromosome 13 (green) and 21 (red) centromere probes hybrydized (fluorescent in situ hybridization, FISH)
human lymphocyte nucleus stained with DAPI with chromosome 13 (green) and 21 (red) centromere probes hybrydized (fluorescent in situ hybridization, FISH)
Obraz fluorescencyjny jądra ludzkiego limfocytu barwionego diaminofenyloindolem (DAPI) z sygnałami sond swoistych dla chromosomów 13 (zielony, sonda znakowana fluoresceiną) i 21 (czerwony, sonda znakowana rodaminą), uzyskany w wyniku zastosowania techniki FISH
Image by Gregor1976/Wikimedia
MicroRNA and mRNA visualization in differentiating C1C12 cells
ViewRNA assay for detection of miR-133 microRNA (green) and myogenin mRNA (red) in differentiating C2C12 cells.
Image by Ryan Jeffs/Wikimedia
FISH Her2
Her2 gene amplification by FISH (fluorescent in situ hybridization) in breast cancer cells
Image by IrinaPav/Wikimedia
PLoSBiol3.5.Fig7ChromosomesAluFish
Human metaphase chromosomes were subjected to fluorescence in situ hybridization with a probe to the Alu Sequence (green signals)and counterstained for DNA (red).
Image by Andreas Bolzer, Gregor Kreth, Irina Solovei, Daniela Koehler, Kaan Saracoglu, Christine Fauth, Stefan Müller, Roland Eils, Christoph Cremer, Michael R. Speicher, Thomas Cremer/Wikimedia
Q-FISH workflow
General workflow for Q-FISH with cultured cells.
Image by Jclam at English Wikipedia/Wikimedia
Fluorescence in Situ Hybridization (FISH)
Video by Leukemia & Lymphoma Society/YouTube
Hybridization (microarray) | Biomolecules | MCAT | Khan Academy
Video by khanacademymedicine/YouTube
Fluorescence In Situ Hybridization (FISH)
Video by Abnova/YouTube
FISH Technique Fluorescent In Situ Hybridization HD Animation 1
Video by ПИМУ - Приволжский исследовательский мед.универ./YouTube
Microbiology: Immunofluorescence Detection of Bacteria
Video by biologycourses/YouTube
Fluorescence In Situ Hybridization (FISH)
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA sequence on a chromosome.
Image by National Human Genome Research Institute (NHGRI)
Hybridization
Hybridization is the process of combining two complementary single-stranded DNA or RNA molecules and allowing them to form a single double-stranded molecule through base pairing.
Image by National Human Genome Research Institute (NHGRI)
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3 Detected by Interspecies cDNA array CGH
(A) Human duplication of a cluster of genes at Chromosome 5q13.3. is shown by two separate, and sometimes multiple, red BAC probe (CTD-2288G5) signals in interphase cells, with only one green BAC probe signal (RP11-1077O1) for a flanking region. Metaphase FISH shows both probes at band 5q13. The third nucleus in (A) shows four signals of the control probe (green) and eight copies of the BAC probe duplicated in the aCGH assay, consistent with the pattern expected in an S/G2 nucleus.
(B–E) Bonobo (B), chimpanzee (C), gorilla (D), and orangutan (E) interphase FISH studies all show no increased signal for the human duplicated gene cluster, with signals of comparable size for the CTD-2288G5 (red) and the flanking RP11-107701 (green) probes. Metaphase FISH analyses show the gene cluster to be in the p arm of Chromosomes 4 (corresponding to the human Chromosome 5) in both the bonobo and chimpanzee, in the q arm of Chromosome 4 (corresponding to the human Chromosome 5) in the orangutan, and in the p arm of the gorilla Chromosome 19 (syntenic regions to human Chromosomes 5 and 17).
Image by Fortna, A.; Kim, Y.; MacLaren, E.; Marshall, K.; Hahn, G.; Meltesen, L.; Brenton, M.; Hink, R.; Burgers, S.; Hernandez-Boussard, T.; Karimpour-Fard, A.; Glueck, D.; McGavran, L.; Berry, R.; Pollack, J.; Sikela, J. M.
FISH18
In situ hybridization. 18p (green) and 18q (red) with subtelomeric probes showing 18p deletion in the patient with De Grouchy syndrome type I (deletion 18p)
Image by /Wikimedia
Kidney section, fluorescence microscopy
Kidney section. IHC stained with Cy3 (red), anti-GFP antibody stained with Alexa 488(green), nuclei stained with DAPI (blue). Fluorescence microscopy with ZEISS Axio Observer, Axiocam, Colibri 7. www.zeiss.com/axioobserver
Image by ZEISS Microscopy
Fish analysis di george syndrome
Figure 2. Result of FISH analysis using LSI probe (TUPLE 1) from DiGeorge/velocardiofacial syndrome critical region. TUPLE 1 (HIRA) probe was labeled in Spectrum Orange and Arylsulfatase A (ARSA) in SpectrumGreen as control. Absence of the orange signal indicates deletion of the TUPLE 1 locus at 22q11.2. Tonelli et al. Journal of Medical Case Reports 2007 1:167 doi:10.1186/1752-1947-1-167
Image by Adriano R Tonelli1 , Kalyan Kosuri1 , Sainan Wei2 and Davoren Chick1/Wikimedia
Sensitive content
This media may include sensitive content
Chromosomal Instability in Breast Cancer Cells
Visualization of the enormous degree of chromosomal instability in primary breast cancers using fluorescence in situ hybridization to identify copy number changes of specific chromosomes and oncogenes.
This image was originally submitted as part of the 2015 NCI Cancer Close Up project. This image is part of the NCI Cancer Close Up 2015 collection.
See also https://visualsonline.cancer.gov/closeup.
Image by NCI Center for Cancer Research / Thomas Ried
Mapping a Gene
Mapping the position of genes in the cell nucleus sheds light on basic principles governing the genome. Here, a single gene called Pem (purple) has been localized using fluorescence in situ hybridization. DNA is stained blue; the cell cytoplasm is stained green.
This image was originally submitted as part of the 2015 NCI Cancer Close Up project and selected for exhibit. This image is part of the NCI Cancer Close Up 2015 collection.
See also https://visualsonline.cancer.gov/closeup.
Image by NCI Center for Cancer Research / Tom Misteli
Prokaryotic Diversity
This (a) microbial mat, about one meter in diameter, grows over a hydrothermal vent in the Pacific Ocean in a region known as the “Pacific Ring of Fire.” The mat helps retain microbial nutrients. Chimneys such as the one indicated by the arrow allow gases to escape. (b) In this micrograph, bacteria are visualized using fluorescence microscopy. (credit a: modification of work by Dr. Bob Embley, NOAA PMEL, Chief Scientist; credit b: modification of work by Ricardo Murga, Rodney Donlan, CDC; scale-bar data from Matt Russell)
Image by CNX Openstax
Biofilm formed by a pathogen
A biofilm is a highly organized community of microorganisms that develops naturally on certain surfaces. These communities are common in natural environments and generally do not pose any danger to humans. Many microbes in biofilms have a positive impact on the planet and our societies. Biofilms can be helpful in treatment of wastewater, for example. This dime-sized biofilm, however, was formed by the opportunistic pathogen Pseudomonas aeruginosa. Under some conditions, this bacterium can infect wounds that are caused by severe burns. The bacterial cells release a variety of materials to form an extracellular matrix, which is stained red in this photograph. The matrix holds the biofilm together and protects the bacteria from antibiotics and the immune system. A biofilm is a highly organized community of microorganisms that develops naturally on certain surfaces. These communities are common in natural environments and generally do not pose any danger to humans. Many microbes in biofilms have a positive impact on the planet and our societies. Biofilms can be helpful in treatment of wastewater, for example. This dime-sized biofilm, however, was formed by the opportunistic pathogen Pseudomonas aeruginosa. Under some conditions, this bacterium can infect wounds that are caused by severe burns. The bacterial cells release a variety of materials to form an extracellular matrix, which is stained red in this photograph. The matrix holds the biofilm together and protects the bacteria from antibiotics and the immune system.
Image by Scott Chimileski, Ph.D., and Roberto Kolter, Ph.D., Harvard Medical School.
This browser does not support the video element.
Biofilm blocking fluid flow
This time-lapse movie shows that bacterial communities called biofilms can create blockages that prevent fluid flow in devices such as stents and catheters over a period of about 56 hours. This video was featured in a news release from Princeton University.
Video by NIGMS/Knut Drescher, Princeton University
5 stages of biofilm development
Stage 1, initial attachment; stage 2, irreversible attachment; stage 3, maturation I; stage 4, maturation II; stage 5, dispersion. Each stage of development in the diagram is paired with a photomicrograph of a developing Pseudomonas aeruginosa biofilm. All photomicrographs are shown to same scale
Image by D. Davis
Toxins under microscope
This digitally colorized scanning electron microscopic (SEM) image of an untreated water specimen extracted from a wild stream mainly used to control flooding during inclement weather; revealed the presence of unidentified organisms; which included bacteria; protozoa; and algae. In this particular view; a microorganism is featured; the exterior of which is covered by numerous projections imparting an appearance of a sea urchin. This microscopic pin cushion; was tethered to its surroundings by a biofilm; within which many bacteria; and amoeboid protozoa could be seen enmeshed as well.
Image by CDC/ Janice Haney Carr
Toxins
Under a magnification of 2500X, this digitally colorized scanning electron microscopic (SEM) image of an untreated water specimen extracted from a wild stream mainly used to control flooding during inclement weather, revealed the presence of unidentified organisms, which included bacteria, protozoa, and algae. In this particular view, a microorganism is featured, the exterior of which is covered by numerous projections, imparting an appearance of a sea urchin. This microscopic pincushion was tethered to its surroundings by a biofilm, within which many bacteria and amoeboid protozoa could be seen enmeshed as well. See PHIL 11781 for a greater magnification of this organism’s exterior.
Image by CDC/ Janice Haney Carr
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confocal laser scanning microscope of biofilm of Salmonella enterica (pink) and Erwinia chrysanthemi (green)
Using a confocal laser scanning microscope, microbiologist Maria Brandl examines a mixed biofilm of Salmonella enterica (pink) and Erwinia chrysanthemi (green) in soft rot lesions on cilantro leaves (blue).
Image by USDA Agricultural Research Service/Photo by Peggy Greb.
Flourescence In Situ Hybridization (FISH)
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specifc genes or portions of genes. This is important for understanding a variety of chromosomal abnormalities and other genetic mutations. Unlike most other techniques used to study chromosomes, FISH does not have to be performed on cells that are actively dividing. This makes it a very versatile procedure. Credit: Darryl Leja, NHGRI.
Image by National Human Genome Research Institute (NHGRI) from Bethesda, MD, USA/Wikimedia
Fluorescence in situ hybridization (FISH) image of bcr/abl positive rearranged metaphase
FISH method. The chromosomes are blue in the fluorescence microscope , except for a point on one of the chromosomes, which is green and red. This is where the sequence causing one of the types of leukemia is located
Image by Pmx
In situ hybridization of the Her2 gene (unamplified)
The image shows nuclei of neoplastic cells of a breast cancer with a normal number of copies of the Her2 gene (red signals) (in green, centromere labeling signals). Technique: in situ hybridization of interphase nuclei obtained from paraffin-embedded material from breast cancer.
Image by Manuel Medina Pérez/Wikimedia
Probe
A probe is a single-stranded sequence of DNA or RNA used to search for its complementary sequence in a sample genome.
Image by National Human Genome Research Institute (NHGRI)
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
National Human Genome Research Institute
HER2 FISH on Breast Cancer
Anistalista
Indian Muntjac fibroblast cells
ZEISS Microscopy/Flickr
Aspergillosis
CDC/ Dr. William Kaplan
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3 Detected by Interspecies cDNA aCGH - journal.pbio.0020207.g003
Pepetps
Togopic
Ivan Akira
Magnus Manske
Timothy W. Ford/Wikimedia
Results of in situ hybridization of chromosome X and Y BAC probes
Joanne H. Hsu, Hui Zeng, Kalistyn H. Lemke, Aris A. Polyzos, Jingly F. Weier, Mei Wang, Anna R. Lawin-O’Brien, Heinz-Ulrich G. Weier and Benjamin O’Brien/Wikimedia
Hordeum vulgare stained by fluorescent in situ hybridization
Karol007 and Marcello002/Wikimedia
FISH versus CISH Detection
Escott16/Wikimedia
FISH (technique)
Thomas Ried/Wikimedia
Results of in situ hybridization of a chromosome 16 BAC probe
Joanne H. Hsu, Hui Zeng, Kalistyn H. Lemke, Aris A. Polyzos, Jingly F. Weier, Mei Wang, Anna R. Lawin-O’Brien, Heinz-Ulrich G. Weier and Benjamin O’Brien/Wikimedia
FISH human lymphocyte nucleus stained with DAPI with chromosome 13 (green) and 21 (red) centromere probes hybrydized (fluorescent in situ hybridization, FISH)
Gregor1976/Wikimedia
MicroRNA and mRNA visualization in differentiating C1C12 cells
Ryan Jeffs/Wikimedia
FISH Her2
IrinaPav/Wikimedia
PLoSBiol3.5.Fig7ChromosomesAluFish
Andreas Bolzer, Gregor Kreth, Irina Solovei, Daniela Koehler, Kaan Saracoglu, Christine Fauth, Stefan Müller, Roland Eils, Christoph Cremer, Michael R. Speicher, Thomas Cremer/Wikimedia
Q-FISH workflow
Jclam at English Wikipedia/Wikimedia
3:22
Fluorescence in Situ Hybridization (FISH)
Leukemia & Lymphoma Society/YouTube
8:57
Hybridization (microarray) | Biomolecules | MCAT | Khan Academy
khanacademymedicine/YouTube
5:01
Fluorescence In Situ Hybridization (FISH)
Abnova/YouTube
1:44
FISH Technique Fluorescent In Situ Hybridization HD Animation 1
Microbiology: Immunofluorescence Detection of Bacteria
biologycourses/YouTube
Fluorescence In Situ Hybridization (FISH)
National Human Genome Research Institute (NHGRI)
Hybridization
National Human Genome Research Institute (NHGRI)
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3
Fortna, A.; Kim, Y.; MacLaren, E.; Marshall, K.; Hahn, G.; Meltesen, L.; Brenton, M.; Hink, R.; Burgers, S.; Hernandez-Boussard, T.; Karimpour-Fard, A.; Glueck, D.; McGavran, L.; Berry, R.; Pollack, J.; Sikela, J. M.
FISH18
/Wikimedia
Kidney section, fluorescence microscopy
ZEISS Microscopy
Fish analysis di george syndrome
Adriano R Tonelli1 , Kalyan Kosuri1 , Sainan Wei2 and Davoren Chick1/Wikimedia
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Chromosomal Instability in Breast Cancer Cells
NCI Center for Cancer Research / Thomas Ried
Mapping a Gene
NCI Center for Cancer Research / Tom Misteli
Prokaryotic Diversity
CNX Openstax
Biofilm formed by a pathogen
Scott Chimileski, Ph.D., and Roberto Kolter, Ph.D., Harvard Medical School.
0:08
Biofilm blocking fluid flow
NIGMS/Knut Drescher, Princeton University
5 stages of biofilm development
D. Davis
Toxins under microscope
CDC/ Janice Haney Carr
Toxins
CDC/ Janice Haney Carr
Sensitive content
This media may include sensitive content
confocal laser scanning microscope of biofilm of Salmonella enterica (pink) and Erwinia chrysanthemi (green)
USDA Agricultural Research Service/Photo by Peggy Greb.
Flourescence In Situ Hybridization (FISH)
National Human Genome Research Institute (NHGRI) from Bethesda, MD, USA/Wikimedia
Fluorescence in situ hybridization (FISH) image of bcr/abl positive rearranged metaphase
Pmx
In situ hybridization of the Her2 gene (unamplified)
Manuel Medina Pérez/Wikimedia
Probe
National Human Genome Research Institute (NHGRI)
Immunophenotyping Test
Immunophenotyping Test
Also called: Lymphocyte Subtyping, Lymphocyte Immunophenotyping, Immunophenotype Profile
Immunophenotyping is a test that detects the presence or absence of white blood cell (WBC) antigens in a sample of blood, bone marrow or lymph node cells. The test is used in basic research and to help diagnose and classify diseases, such as specific types of leukemia and lymphoma.
Immunophenotyping Test
Also called: Lymphocyte Subtyping, Lymphocyte Immunophenotyping, Immunophenotype Profile
Immunophenotyping is a test that detects the presence or absence of white blood cell (WBC) antigens in a sample of blood, bone marrow or lymph node cells. The test is used in basic research and to help diagnose and classify diseases, such as specific types of leukemia and lymphoma.
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Use the slider below to see how your results affect your
health.
Your result is Normal.
No significant immunophenotypic abnormality detected.
Related conditions
Immunophenotyping | NCI's Dictionary of Cancer Terms [accessed on Feb 19, 2022]
Blood Work | How This Provides Clues On Your Health | Leukemia & Lymphoma Society® (LLS) [accessed on Feb 18, 2022]
Immunophenotyping | Labcorp [accessed on Feb 19, 2022]
480260: Leukemia/Lymphoma Immunophenotyping Profile | Labcorp [accessed on Feb 19, 2022]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (3)
Burkitts lymphoma
Burkitt's lymphoma histology image
Image by Ed Uthman, MD.
Immunophenotyping | Flow Cytometry & Immunophenotyping Test |
Video by BMH learning/YouTube
Immunophenotyping made easy: streamline your bench
Video by Miltenyi Biotec/YouTube
Burkitts lymphoma
Ed Uthman, MD.
2:21
Immunophenotyping | Flow Cytometry & Immunophenotyping Test |
BMH learning/YouTube
1:51
Immunophenotyping made easy: streamline your bench
PCR (polymerase chain reaction) tests identify genetic material in a sample to diagnose an infectious disease or a genetic condition. PCR tests are also used to detect cancer and monitor response to treatment. The tests are fast and highly accurate.
PCR (polymerase chain reaction) tests identify genetic material in a sample to diagnose an infectious disease or a genetic condition. PCR tests are also used to detect cancer and monitor response to treatment. The tests are fast and highly accurate.
{"label":"PCR Reference Range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"negative","label":{"short":"Negative","long":"Negative","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"A negative PCR result means that the DNA or RNA of the pathogen (disease-causing organism) or abnormal cells where not found in your sample.","conditions":[]},{"flag":"positive","label":{"short":"Positive","long":"Positive","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"A positive PCR result means that the DNA or RNA of the pathogen (disease-causing organism) or abnormal cells where found in your sample.","conditions":["COVID-19","Lyme disease","Pertussis","HPV","CMV","Gonorrhea","Chlamydia","Cancer"]}],"value":0.5}[{"negative":0},{"positive":0}]
Use the slider below to see how your results affect your
health.
Your result is Negative.
A negative PCR result means that the DNA or RNA of the pathogen (disease-causing organism) or abnormal cells where not found in your sample.
Related conditions
PCR (polymerase chain reaction) tests are a fast, highly accurate way to diagnose certain infectious diseases and genetic changes. The tests work by finding the DNA or RNA of a pathogen (disease-causing organism) or abnormal cells in a sample.
DNA is the genetic material that contains instructions and information for all living things.
RNA is another type of genetic material. It contains information that has been copied from DNA and is involved in making proteins.
Most viruses and other pathogens contain DNA or RNA.
Unlike many other tests, PCR tests can find evidence of disease in the earliest stages of infection. Other tests may miss early signs of disease because there aren't enough viruses, bacteria, or other pathogens in the sample, or your body hasn't had enough time to develop an antibody response. Antibodies are proteins made by your immune system to attack foreign substances, such as viruses and bacteria. PCR tests can detect disease when there is only a very small amount of pathogens in your body.
During a PCR test, a small amount of genetic material in a sample is copied multiple times. The copying process is known as amplification. If there are pathogens in the sample, amplification will make them much easier to see.
PCR tests are used to:
Diagnose certain infectious diseases
Identify a genetic change that can cause disease
Find small amounts of cancer cells that might be missed in other types of tests
PCR tests work by:
Taking a sample of blood, saliva, mucus, or tissue
The sample will contain your own DNA and possibly the DNA of a pathogen or cancer cell.
The sample is put in a special machine. An enzyme called polymerase is added to the sample. This causes the sample to produce copies.
The copying process is repeated multiple times. After about an hour, billions of copies are made. If a virus or pathogen is present, it will be indicated on the machine.
Certain viruses, including COVID-19, are made up of RNA rather than DNA. For these viruses, the RNA must be changed into DNA before copying. This process is called reverse transcription PCR (rtPCR).
PCR and rtPCR check for the presence of a pathogen. Another type of PCR known as quantitative PCR (qPCR) measures the amount of pathogens in the sample. qPCR can be done at the same time as PCR or rtPCR.
There are different ways to get a sample for a PCR test. Common methods include blood tests and nasal swabs.
During a blood test, a health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.
A nasal swab may be taken from the front part of your nostrils (anterior nares). It also may be taken from the back of your nostrils, in a procedure known as a nasal mid-turbinate (NMT) swab, or from the nasopharynx, the uppermost part of your nose and throat. In some cases, a health care provider will ask you to do an anterior nares test or an NMT swab yourself.
During an anterior nares test, you will start by tilting your head back. Then you or the provider will:
Gently insert a swab inside your nostril
Rotate the swab and leave it in place for 10 to 15 seconds
Remove the swab and insert it into your second nostril
Swab the second nostril using the same technique
Remove the swab
During an NMT swab, you will start by tilting your head back. Then you or your provider will:
Gently insert a swab onto the bottom of the nostril, pushing it until you feel it stopping
Rotate the swab for 15 seconds
Remove the swab and insert it into your second nostril
Swab the second nostril using the same technique
Remove the swab
During a nasopharyngeal swab:
You will tip your head back.
Your health care provider will insert a swab into your nostril until it reaches your nasopharynx (the upper part of your throat).
Your provider will rotate the swab and remove it.
You don't need any special preparations for a PCR test.
There is very little risk to having a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
A nasal swab may tickle your throat or cause you to cough. A nasopharyngeal swab may be uncomfortable and cause coughing or gagging. All these effects are temporary.
PCR tests are an accurate and reliable method for identifying many infectious diseases. And because they are often able to make diagnoses before symptoms of infection occur, PCR tests play a crucial role in preventing the spread of diseases.
PCR Tests: MedlinePlus Medical Test [accessed on Jan 05, 2022]
NCI Dictionary of Cancer Terms [accessed on Jan 05, 2022]
Laboratory Methods - Testing.com [accessed on Feb 18, 2022]
Blood Work | How This Provides Clues On Your Health | Leukemia & Lymphoma Society® (LLS) [accessed on Jan 05, 2022]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (31)
Polymerase Chain Reaction (PCR)
Polymerase chain reaction (PCR) is a technique used to "amplify" small segments of DNA.
Image by National Human Genome Research Institute (NHGRI)
Biotechnology
Polymerase chain reaction, or PCR, is used to amplify a specific sequence of DNA. Primers—short pieces of DNA complementary to each end of the target sequence—are combined with genomic DNA, Taq polymerase, and deoxynucleotides. Taq polymerase is a DNA polymerase isolated from the thermostable bacterium Thermus aquaticus that is able to withstand the high temperatures used in PCR. Thermus aquaticus grows in the Lower Geyser Basin of Yellowstone National Park. Reverse transcriptase PCR (RT-PCR) is similar to PCR, but cDNA is made from an RNA template before PCR begins.
Image by CNX Openstax
Antigenic Shift
Illustration of antigenic shift. NIAID illustration of potential influenza genetic reassortment
Image by National Institute of Allergy and Infectious Diseases (NIAID)
Laboratory Researcher
Chanelle Case Borden, Ph.D., a postdoctoral fellow in the National Cancer Institute's Experimental Immunology Branch, pipetting DNA samples into a tube for polymerase chain reaction, or PCR, a laboratory technique used to make multiple copies of a segment of DNA.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
Laboratory Researcher
Chanelle Case Borden, Ph.D., a postdoctoral fellow in the National Cancer Institute's Experimental Immunology Branch, pipetting DNA samples into a tube for polymerase chain reaction, or PCR, a laboratory technique used to make multiple copies of a segment of DNA.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
Laboratory Researcher
Chanelle Case Borden, Ph.D., a postdoctoral fellow in the National Cancer Institute's Experimental Immunology Branch, pipetting DNA samples into a tube for polymerase chain reaction, or PCR, a laboratory technique used to make multiple copies of a segment of DNA.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
Laboratory
Microcentrifuge tubes in a rack. Some of them are DNA samples while the remainder of them are primers to be used in polymerase chain reaction, or PCR, a laboratory technique used to make multiple copies of a segment of DNA.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
Laboratory Pipette
National Cancer Institute researcher pipetting DNA samples into a tube for polymerase chain reaction, or PCR, a laboratory technique used to make multiple copies of a segment of DNA.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
Laboratory Researcher
Chanelle Case Borden, Ph.D., a postdoctoral fellow in the National Cancer Institute's Experimental Immunology Branch, pipetting DNA samples into a tube for polymerase chain reaction, or PCR, a laboratory technique used to make multiple copies of a segment of DNA.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
Polymerase chain reaction (PCR)
Video by khanacademymedicine/YouTube
Polymerase Chain Reaction (PCR)
Video by DNA Learning Center/YouTube
PCR tubes
Photo of a strip of PCR tubes, each tube contains a 1000uL (1mL) reaction.
Image by Madprime
What is Polymerase Chain Reaction? | PCR Explained
Video by 2 Minute Classroom/YouTube
Laboratory Researcher
Chanelle Case Borden, Ph.D., a postdoctoral fellow in the National Cancer Institute's Experimental Immunology Branch, pipetting DNA samples into a tube for polymerase chain reaction, or PCR, a laboratory technique used to make multiple copies of a segment of DNA.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
DNA Genotyping and Sequencing
A technician loads samples into a digital PCR machine at the Cancer Genomics Research Laboratory, part of the National Cancer Institute's Division of Cancer Epidemiology and Genetics (DCEG). Polymerase chain reaction (PCR) is a technique that greatly amplifies small pieces of DNA, generating many thousands of copies of a particular DNA sequence.
See also https://dceg.cancer.gov/about/organization/programs-hgp/cgr.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
Laboratory Researcher
National Cancer Institute researcher setting up genetic samples and primers for polymerase chain reaction, or PCR, a laboratory technique used to make multiple copies of a segment of DNA.
Image by National Cancer Institute (NCI) / Daniel Sone (photographer)
Biotechnology
Southern blotting is used to find a particular sequence in a sample of DNA. DNA fragments are separated on a gel, transferred to a nylon membrane, and incubated with a DNA probe complementary to the sequence of interest. Northern blotting is similar to Southern blotting, but RNA is run on the gel instead of DNA. In western blotting, proteins are run on a gel and detected using antibodies.
Image by CNX Openstax
simple sequence repeat (SSR, a.k.a. microsatellite) locus
A number of DNA samples from specimens of Littorina plena amplified using polymerase chain reaction with primers targeting a variable simple sequence repeat (SSR, a.k.a. microsatellite) locus. Samples have been run on a 5% polyacrylamide gel and visualized using silver staining.
Image by ParinoidMarvin/Wikimedia
Biotechnology
This diagram shows the steps involved in molecular cloning.
Image by CNX Openstax
Gene therapy
Gene therapy using an adenovirus vector can be used to cure certain genetic diseases in which a person has a defective gene. (credit: NIH)
Image by U.S. National Library of Medicine
Testing for Ebola
Technicians set up polymerase chain reaction, or PCR, assay for Ebola in a containment laboratory. Assay components are assembled in the PCR hood to prevent contamination that could interfere with test results.
Image by U.S. Army photo by Dr. Randal J. Schoepp
reverse transcription polymerase chain reaction test
Microbiologist Erica Spackman reviews results of a reverse transcription polymerase chain reaction test to determine whether there is virus in a sample and to generate material for gene sequencing.
Image by USDA Agricultural Research Service/Photo by Suzanne Deblois.
How to Perform a Polymerase Chain Reaction | William Armour & Laura Towns
Oxford Academic (Oxford University Press)/YouTube
8:08
Gel Electrophoresis
Amoeba Sisters/YouTube
9:34
Polymerase chain reaction
Osmosis/YouTube
Polymerase Chain Reaction (PCR)
National Human Genome Research Institute (NHGRI)
Primer
National Human Genome Research Institute (NHGRI)
What Do the Results Mean?
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Liquid biopsy
Image by Jill George/NIH
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Liquid biopsy
Tumor cells shed protein and DNA into bloodstream for laboratory analysis and early cancer detection.
Image by Jill George/NIH
What Do the Results of a Biomarker Test Mean?
The results of a biomarker test could show that your cancer has a certain biomarker that is targeted by a known therapy. That means that the therapy may work to treat your cancer.
The results could also show that your cancer has a biomarker that may prevent a certain therapy from working. This information could spare you from getting a treatment that won’t help you.
In many cases, biomarker testing may find changes in your cancer that won’t help your doctor make treatment decisions. For example, genetic changes that are thought to be harmless (benign) or whose effects are not known (variant of unknown significance) are not used to make treatment decisions.
Based on your test results, your health care provider may recommend a treatment that has not been approved by the FDA as a treatment for the type of cancer that you have, but is approved for the treatment of a different type of cancer. However, the therapy may still work for you because your cancer has the biomarker that the treatment targets.
Some biomarker tests can find genetic changes that you may have been born with (inherited) that increase your risk of cancer or other diseases. These genetic changes are also called germline mutation. If such a change is found, you may need to get another genetic test to confirm whether you truly have an inherited mutation that increases cancer risk.
Finding out that you have an inherited mutation that increases cancer risk may affect you and your family. For that reason, your health care provider may recommend that you speak with a genetic healthcare provider (such as a genetic counselor, clinical geneticist, or a certified genetic nurse) to help you understand what the test results mean for you and your family.
Source: National Cancer Institute (NCI)
Additional Materials (1)
The interpretation of cancer biomarker test results
Video by OncoDNA SA/YouTube
2:20
The interpretation of cancer biomarker test results
OncoDNA SA/YouTube
Will It Help Me?
Cancer biomarker figure
Image by K.go2011/Wikimedia
Cancer biomarker figure
Diagram of questions that can be answered by cancer biomarkers
Image by K.go2011/Wikimedia
Will Biomarker Testing for Cancer Treatment Help Me?
Biomarker tests don’t help everyone who gets them. There could be several different reasons why they may not help you.
One reason is that the test might not find a biomarker in your cancer that matches with an available therapy.
Even if your cancer has a biomarker that matches an available treatment, the therapy may not work for you. Sometimes other features of your cancer or your body affect how well a treatment works, such as how the medicine is broken down in your body.
Another reason the treatment might not work is that not all of your cancer cells have the same biomarkers. That means that a biomarker test may find a treatment that will kill some, but not all, of your cancer cells. Cancer cells that are not killed by the treatment could keep growing, preventing the treatment from working or causing the cancer to come back.
One other reason biomarker tests might not help is because the biomarkers in your cancer can change over time. But a test only captures a “snapshot” of the changes at one point in time. So, the results of a biomarker test done in the past may not reflect the biomarkers in your cancer now. Your health care provider may want to test your cancer again, for example, if it comes back after treatment.
Source: National Cancer Institute (NCI)
Additional Materials (1)
The selection of a tumour genomic test
Video by OncoDNA SA/YouTube
2:13
The selection of a tumour genomic test
OncoDNA SA/YouTube
How Much Does It Cost?
Test Tubes
Image by National Cancer Institute / Bill Branson (Photographer)
Test Tubes
A laboratory is back lit with a rack of test tubes in the foreground. In the background is a profile of a technician holding up a test tube. The background has a green hue.
Image by National Cancer Institute / Bill Branson (Photographer)
How Much Does Biomarker Testing for Cancer Treatment Cost?
The cost of biomarker testing varies widely depending on the type of test you get, the type of cancer you have, and your insurance plan.
For people with advanced cancer, some biomarker tests are covered by Medicare and Medicaid. Private insurance providers often cover the cost of a biomarker test if there is enough proof that the test is required to guide treatment decisions. Tests without enough proof to support their value may be considered experimental and are likely not covered by insurance.
Many clinical trials involve biomarker testing. If you join one of these clinical trials, the cost of biomarker testing might be covered. The study coordinator can give you more information about related costs.
Source: National Cancer Institute (NCI)
Additional Materials (1)
Biomarkers in Cancer Immunotherapy: What Patients Need to Know
Video by Cancer Research Institute/YouTube
46:29
Biomarkers in Cancer Immunotherapy: What Patients Need to Know
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Biomarker Testing for Cancer Treatment
Biomarker testing for cancer treatment is a way to look for genes, proteins, and other biomarkers that can provide information about your specific cancer. This can help you and your doctor choose the best cancer treatment for you. Learn more about biomarker testing and how it's being used to diagnose and treat cancer.