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Questions and Answers
What is the primary reason for prompt collection and proper storage of protein samples?
Which type of molecular testing is specifically designed to identify a known variant that causes a disorder?
When is whole exome sequencing typically used?
Gene panel testing is most useful in diagnosing conditions caused by:
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What is one potential benefit of a negative result in genetic testing?
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Which testing method would likely be used when symptoms suggest a wide array of conditions?
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What best describes molecular testing?
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Which type of genetic testing is often performed before implantation during in vitro fertilization?
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What type of test is primarily used to identify changes in genes, chromosomes, or proteins?
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Which type of genetic testing examines the structure and number of whole chromosomes?
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What sample type is most commonly used for cytogenetic analysis?
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Which of the following are examples of types of protein changes that can result in disease?
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In clinical testing for biochemical diseases, which sample types are typically analyzed?
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What does molecular testing focus on in the context of genetic testing?
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Which of the following roles does a regulatory protein not fulfill?
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What is NOT a feature of biochemical testing?
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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
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Cytogenetic Testing examines whole chromosomes for abnormalities.
- Most commonly used for prenatal testing and cancer diagnosis.
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Biochemical Testing analyzes protein activity, levels of metabolites, and protein size or quantity.
- Used for diagnosis of metabolic diseases such as phenylketonuria (PKU).
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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.
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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.
