Molecular Diagnostics and Genetic Testing
16 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the primary reason for prompt collection and proper storage of protein samples?

  • Proteins can degrade quickly. (correct)
  • Proteins are more stable than DNA.
  • Proteins require larger sample sizes.
  • Laboratory specifications are not important.

    • Which type of molecular testing is specifically designed to identify a known variant that causes a disorder?

  • Gene panel
  • Single gene
  • Whole exome sequencing
  • Targeted single variant (correct)

    • When is whole exome sequencing typically used?

  • To confirm the diagnosis of a familial condition.
  • When single gene or panel testing fails to provide a diagnosis. (correct)
  • To search for variants in one gene.
  • For routine newborn screening.

    • Gene panel testing is most useful in diagnosing conditions caused by:

    <p>Variants in multiple genes.</p> Signup and view all the answers

    What is one potential benefit of a negative result in genetic testing?

    <p>It eliminates the need for unnecessary follow-up.</p> Signup and view all the answers

    Which testing method would likely be used when symptoms suggest a wide array of conditions?

    <p>Gene panel testing</p> Signup and view all the answers

    What best describes molecular testing?

    <p>It looks for changes in one or more genes.</p> Signup and view all the answers

    Which type of genetic testing is often performed before implantation during in vitro fertilization?

    <p>Preimplantation testing</p> Signup and view all the answers

    What type of test is primarily used to identify changes in genes, chromosomes, or proteins?

    <p>Genetic Testing</p> Signup and view all the answers

    Which type of genetic testing examines the structure and number of whole chromosomes?

    <p>Cytogenetic Testing</p> Signup and view all the answers

    What sample type is most commonly used for cytogenetic analysis?

    <p>White blood cells</p> Signup and view all the answers

    Which of the following are examples of types of protein changes that can result in disease?

    <p>No protein made, too much or too little protein made</p> Signup and view all the answers

    In clinical testing for biochemical diseases, which sample types are typically analyzed?

    <p>Blood and amniotic fluid</p> Signup and view all the answers

    What does molecular testing focus on in the context of genetic testing?

    <p>Detecting mutations and variations in DNA sequences</p> Signup and view all the answers

    Which of the following roles does a regulatory protein not fulfill?

    <p>Catalyzing biochemical reactions</p> Signup and view all the answers

    What is NOT a feature of biochemical testing?

    <p>Examination of chromosome structure</p> Signup and view all the answers

    Study Notes

    Molecular Diagnostics

    • Molecular Diagnostics is a field of laboratory medicine that analyzes DNA, RNA, and proteins to diagnose and monitor diseases.

    Types of Genetic Testing

    • Cytogenetic Testing examines whole chromosomes for abnormalities.
      • Most commonly used for prenatal testing and cancer diagnosis.
    • Biochemical Testing analyzes protein activity, levels of metabolites, and protein size or quantity.
      • Used for diagnosis of metabolic diseases such as phenylketonuria (PKU).
    • Molecular Testing focuses on small DNA mutations.
      • Can be performed on any tissue sample.
      • Different types include:
        • Targeted Single Variant tests for a specific variant in a gene.
        • Single Gene tests for any genetic changes in one gene.
        • Gene Panel tests for variants in multiple genes.
        • Whole Exome (Genome) Sequencing analyzes most of an individual's DNA.

    Uses of Genetic Testing

    • Newborn Screening: identifies genetic disorders shortly after birth.
    • Diagnostic Testing: confirms a suspected diagnosis.
    • Carrier Testing: determines if an individual carries a gene mutation that could be passed on to their children.
    • Prenatal Testing: analyzes genetic risks during pregnancy.
    • Preimplantation Testing: screens embryos for genetic disorders before implantation during IVF.
    • Predictive and Presymptomatic Testing: identifies those at risk of developing a genetic disorder.
    • Forensic Testing: uses DNA analysis for identification and legal purposes.

    Benefits of Genetic Testing

    • Knowing your genetic risk can help you take proactive steps to manage your health.
    • A negative result can eliminate the need for unnecessary testing and checkups.

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    Related Documents

    Molecular Diagnostics Lecture 1 (1) PDF

    Description

    Explore the field of Molecular Diagnostics and its role in laboratory medicine. This quiz covers various types of genetic testing, including cytogenetic, biochemical, and molecular testing, and their applications in disease diagnosis and monitoring. Test your knowledge on the different methods and uses of genetic testing.

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser