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Ch. 20 - Recombinant DNA Technology
Chapter 19, Problem 9

Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?

ASO testing determines that an individual is a carrier for the mutant β-globin allele (βˢ) found in sickle-cell anemia.

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1
Understand the difference between prognostic and diagnostic tests: Diagnostic tests are used to confirm or rule out a known or suspected genetic disorder in a symptomatic individual, while prognostic tests predict the likely course or outcome of a disease in an individual who is already diagnosed.
Analyze the purpose of ASO (Allele-Specific Oligonucleotide) testing: ASO testing is used to detect specific alleles, such as the mutant β-globin allele (βˢ) associated with sickle-cell anemia.
Determine if ASO testing is diagnostic or prognostic: Since ASO testing identifies carriers of a specific allele, it is primarily used for diagnostic purposes to confirm the presence of a genetic mutation in an individual.
Consider the context of the test: If the individual being tested is asymptomatic and the test is used to determine carrier status, it is still diagnostic as it identifies the genetic mutation.
Conclude the classification: ASO testing for the β-globin allele (βˢ) in sickle-cell anemia is a diagnostic test because it identifies the presence of a specific genetic mutation.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Prognostic Testing

Prognostic testing refers to tests that predict the likelihood of developing a disease or the likely course of an existing disease. These tests assess genetic markers that may indicate an increased risk of future health issues, helping in risk assessment and management strategies.
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Diagnostic Testing

Diagnostic testing is used to confirm or rule out a specific disease or condition in an individual. These tests analyze genetic material to identify mutations or abnormalities that are directly associated with a particular disorder, providing definitive information about the presence of a disease.
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ASO Testing

Allele-Specific Oligonucleotide (ASO) testing is a molecular technique used to detect specific mutations in genes. In the context of sickle-cell anemia, ASO testing can identify carriers of the β-globin allele, helping to determine genetic status and inform family planning decisions.
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