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Genetic Testing

Genetic Testing

Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. The results of a genetic test can be used to confirm or rule out a suspected genetic disease or to determine the likelihood of a person passing on a mutation to their offspring. Genetic testing may be performed prenatally or after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.

Materials for Genetic Testing


Biology Animation Library - GeneChips

Description: Animation of GeneChips technology

Cycle Sequencing

Description: An animation of DNA sequencing

DNA Arrays

Description: An animation of a DNA array assay

DNA Sequencing - The Sanger Method

Description: Find out about the most commonly used method of sequencing DNA: the dideoxy or chain-termination method, which was developed by Fred Sanger in 1977 (and for which he won his second Nobel Prize).

How to Sequence a Genome

Description: Animations on genome sequencing

Modeling DNA Hybridization

Description: A model of DNA hybridization showing how lab techniques, such as Southern blot and DNA microarrays, use base pairing between denatured DNA strands.


DNA Sequencing - The 454 Method

Description: Watch or download this animation on 454 machines, which are able to read one gigabase of DNA sequence in a couple of days, at a cost of $0.02 per 1000 bases.

DNA Sequencing - The Illumina Method

Description: Illumina sequences DNA around 20 times cheaper than the 454 technology - $0.001 per 1000 bases - and taking just half a day to read one gigabase.

Genetic Testing

Description: An overview on genetic testing

Genetic Testing

Description: A brief description of genetic testing with an extensive list of links that provide further information on this topic

Genome-Wide ssociation studies

Description: Genome-wide association studies have led to the discovery of hundreds of genes with a role in common diseases.

Genomic Testing

Description: Information on genomic testing and an inititive called, EGAPP, to improve oversight of genomic tests

How Do You Find Out the Significance of a Genome After Sequencing?

Description: We have sequenced the genome, put it back together and identified the genes, but now we need to find out what this genome can tell us and how it compares to other genomes.

How Do You Identify the Genes in a Genome?

Description: After the sections of DNA sequence have been assembled into a complete genome sequence we need to identify where the genes and key features are, but how do we do this?

How Is Pharmacogenomics Being Used?

Description: In a small number of cases, doctors are able to use pharmacogenomics in their treatment of patients.

Pharmacogenomics and Cancer

Description: Pharmacogenomics is a specific kind of genetic testing that offers key advantages for doctors trying to choose the best drugs for their patients.

Regulation of Genetic Tests

Description: Learn more about genetic testing, federal regulations of testing, and genomics research.

What advances are being made in DNA sequencing?

Description: An article on next-generation, whole exome, and whole genome sequencing

What Is Genetic Testing?

Description: Genetic testing is an incredibly useful tool for identifying changes or mutations in DNA that could lead to genetic disease.


DNA Roulette

Description: This odds game makes learning about the probabilistic nature of genomics a blast. Unlike traditional roulette where the betting table and odds are always the same, DNA Roulettes odds are different for each disease or trait. Even within a disease, the odds are different depending on which of several possible genotypes is randomly selected by the game engine for that round.

DNA Sequencing Game, Interactive 2D Animation

Description: A short game on DNA sequencing


Genome Sequencing for Healthy Individuals? Think Big and Act Small!

Description: So what is the state of clinical practice in 2017? This article offers a real life glimpse into what is in the works today!

Interactive Tutorials

Bacterial ID Virtual Lab App

Description: Learn about the science and techniques used to identify different types of bacteria based on their DNA sequences. The techniques used in this lab are applicable in a wide variety of settings, including scientific research and forensic labs.

Gender Testing of Athletes

Description: An interactive tutorial that explores the complexities and ethics of gender testing of athletes

Sickle Cell DNA

Description: Learn about Sickle Cell disease and help with DNA testing and genetic counseling of a virtual couple. A Teacher's Guide for incorporating the activity in a High School classroom is provided.

Labs & Experiments

Colorful Electrophoresis

Description: A step by step guide to pouring and running a gel electrophoresis chamber using agar and food coloring from your kitchen pantry.

DNA Extraction

Description: A virtual DNA extraction laboratory experiment

Extracting DNA From Living Things

Description: A laboratory experiment using simple equipment and chemicals to extract DNA from plants and other materials

Gel Electrophoresis

Description: Build your own gel electrophoresis device from scratch with simple materials, and use electricity to separate colored dyes. Gel electrophoresis is a powerful technique used to manipulate and analyze DNA.

PCR Virtual Lab

Description: A PCR virtual laboratory experiment

Restriction Analysis

Description: A DNA virtual laboratory experiment

Teacher Resources

Can you taste PTC? (PDF 1,989.26 KB, Lesson Plans/Lesson Activities)

Description: In this lesson, students use a Single Nucleotide Polymorphism (SNP) kit to determine their genotype for the TAS2R38 gene. While waiting for their results, students also test their PTC tasting ability (phenotype). The class then analyzes both phenotype and genotype data to determine which allele is the taster allele and which allele is the non-taster allele.

Debating the Ethical and Legal Implications of Genetic Testing (PDF 904.59 KB, Lesson Plans/Lesson Activities)

Description: Students explore the difference between ethical and legal issues and use an analytical framework to work through an ethical scenario before researching and debating two genetic testing scenarios. Additional chapters from DNA: Promise and Peril (McCabe, Linda L. and McCabe, Edward R.B. Regents of the University of California Press, 2008.) provide a starting point for their research.

Direct-to-Consumer Genetic Testing (Lesson Plans/Lesson Activities)

Description: This lesson provides students the opportunity to explore the excitement and challenges related to the direct-to-consumer (DTC) genetic testing industry. How do consumers react to genetic information gleaned from DTC services? What information can be learned through a DTC test, and do consumers need or want a doctor or genetic counselor to access this information?

Extracting DNA (Lesson Plans/Lesson Activities)

Description: In this lesson, students develop understanding of DNA by modeling the process of DNA extraction.

Genetic Testing: Road Map or Crystal Ball? (Lesson Plans/Lesson Activities)

Description: Students are exposed to the pros and cons of genetic testing and must take a stand by writing a position paper, after viewing the "Who Gets to Know?" video and/or reading case studies from the Our Genes/Our Choices series.

Genetics and Reproduction (Lesson Plans/Lesson Activities)

Description: This lesson addresses the genetic reproductive technologies that are being used by individuals who, for a variety of reasons, wish to know and/or have some choice about the genetic makeup of their children. It begins with a discussion of the technologies that can reveal the genetic makeup of fetuses and then moves on to a technology called preimplantation genetic diagnosis (PGD). The goal of this lesson is to give students an opportunity to discuss many aspects of PGD such that they become aware of the diversity of opinions surrounding PGD.

How does genotyping work? (Lesson Plans/Lesson Activities)

Description: Students learn about DNA extraction, PCR, restriction digest, and gel electrophoresis through a combination of virtual labs and class discussion. Students learn about the TAS2R38 gene which is involved in the ability to taste bitter foods. Students perform simple bioinformatics using primer sequences and allele sequences of TAS2R38.

Personalized Medicine (Lesson Plans/Lesson Activities)

Description: Personalized medicine, also referred to as precision medicine, holds great promise to improve healthcare. As the cost of genetic analysis decreases and research advances, it is becoming increasingly possible to include the genetic make-up of a person in the repertoire of tools that inform his or her healthcare. This lesson asks students to delve into the hopes and challenges of personalized medicine and to consider the practical applications of genetic analysis in medicine.

Personalized Medicine (aka Pharmacogenomics) (Lesson Plans/Lesson Activities)

Description: In this teaching module students will learn about the concept of personalized medicine; how differences in our genes affect whether a drug treatment will be successful or have serious side effects, and how we can use this information to customize treatments for individual patients. Students will participate in a hands-on activity to further demonstrate how subtle genetic differences affect a patients response to medication.

Protecting Athletes with Genetic Conditions: Sickle Cell Trait (Lesson Plans/Lesson Activities)

Description: As the genetic basis for many health conditions is revealed, some doctors, coaches, and academic and athletic organizations are wondering whether genetic analysis can provide health and safety benefits for athletes. As of 2013, the National Collegiate Athletic Association (NCAA), the governing body of college sports in the United States, began screening all of its athletes for the genetic condition sickle cell trait (SCT). This lesson explores the discussion surrounding this policy and asks students to examine how genetics might impact their own athletic choices and options.


Cracking Your Genetic Code

Description: A public television episode on genomics and healthcare

Everything You Need To Know About Getting DNA Out of Strawberries

Description: In this video Drs. Eric Green and Carla Easter from the National Human Genome Research Institute of the National Institutes of Health demonstrate how to extract DNA from strawberries using everyday household items. An English and Spanish How-To poster is available for download.

Molecular Basis of Heredity: Part 4. Gene Identification and Tests

Description: Raye Lynn Alford, PhD, discusses processes of gene identification for purposes of disease research through specialized technologies and tests.