2.6.2 Carrier Testing

• What is the purpose of carrier testing?

  Identifies mutated allele carriers
• Carriers of a mutated allele exhibit symptoms of the disease.

  False
• A carrier of the gene for cystic fibrosis has one normal allele $CF$ and one mutated allele cf
• Why is carrier testing valuable for couples planning to have children?

  Informed family planning
• Carriers of a mutated allele have one normal and one mutated allele
• What is the genotype of a carrier for cystic fibrosis?

  $Cf$
• Steps in the process of carrier testing

  1️⃣ Sample collection

  2️⃣ DNA extraction

  3️⃣ Amplification (if needed)

  4️⃣ Detection of mutated allele

  5️⃣ Result interpretation
• Individuals with a family history of a genetic disorder should consider carrier testing
• Couples planning to have children should consider carrier testing, especially if there's a known genetic condition in either family.
• What is the reason for carrier testing in individuals with a family history of a genetic disorder?

  Understand the risk
• What is the reason for carrier testing in couples planning to have children?

  Assess inheritance risk
• Why might a couple with a family history of cystic fibrosis consider carrier testing?

  Understand their risk
• Match the type of carrier testing with its focus:

  Single-gene testing ↔️ Specific genetic disorder

  Expanded panel testing ↔️ Multiple disorders simultaneously

  Ethnicity-based testing ↔️ Disorders common in ethnic groups
• Ethnicity-based testing is used to detect disorders more common in specific ethnic populations
• A couple of Ashkenazi Jewish descent might opt for ethnicity-based carrier testing to assess their risk of passing on Tay-Sachs disease.
• What is the primary purpose of carrier testing in family planning?

  Understand inheritance likelihood
• What is a carrier in carrier testing?

  One normal, one mutated allele
• A cystic fibrosis carrier has the genotype $Cf$.
• The main purpose of carrier testing is to identify individuals who carry a mutated allele
• What is the primary purpose of risk assessment in carrier testing?

  Understanding inheritance likelihood
• Match the purpose of carrier testing with its explanation.

  1️⃣ Risk Assessment

  2️⃣ Determines the probability of offspring inheriting a genetic condition

  3️⃣ Family Planning

  4️⃣ Guides decisions about conceiving, adopting, or using reproductive technologies
• If both parents are carriers for cystic fibrosis, their child has a 25% chance of developing the disease.
• Who should consider carrier testing?

  Those with a family history
• Match the group with the reason for carrier testing.

  Family history of genetic disorder ↔️ Understand risk of passing condition

  Couples planning to have children ↔️ Assess risk of child inheriting condition
• Single-gene testing focuses on detecting carriers for a specific genetic disorder
• Which type of carrier testing targets disorders common in specific ethnic populations?

  Ethnicity-based testing
• Steps in the process of carrier testing.

  1️⃣ Sample Collection

  2️⃣ DNA Isolation

  3️⃣ Genetic Analysis

  4️⃣ Result Interpretation
• For which gene are mutations analyzed in cystic fibrosis carrier testing?

  CFTR
• Ethical considerations in carrier testing include informed consent, privacy, and psychological impact.
• What does informed consent ensure in carrier testing?

  Understanding testing implications
• Psychological impact in carrier testing refers to managing the emotional effects of test results
• Match the ethical consideration with its description.

  Informed Consent ↔️ Understanding testing implications

  Privacy ↔️ Protecting genetic information

  Psychological Impact ↔️ Managing emotional effects of results
• What does a positive result in carrier testing indicate?

  Carries mutated allele
• If both parents test positive for a recessive genetic disorder, their child has a 50% chance of being a carrier.
• What genotype does a carrier of cystic fibrosis have?

  $Cf$
• Family planning in carrier testing allows couples to make informed decisions about having children
• Why should couples planning to have children consider carrier testing?

  Assess risk of child inheriting
• If both parents are carriers for cystic fibrosis, there is a 25% chance their child will develop the disease.
• Understanding their carrier status helps individuals make informed decisions about family planning.
• Match the group with their reason for carrier testing:

  Family history of genetic disorder ↔️ To understand the risk of passing on the condition

  Couples planning to have children ↔️ To assess the risk of their child inheriting a genetic condition