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Questions and Answers
Which type of genetic testing examines the chromosomes?
Which type of genetic testing examines the chromosomes?
- Direct or molecular testing
- Biochemical testing
- Linkage analysis
- Cytogenetic testing (correct)
What is the primary goal of prenatal testing?
What is the primary goal of prenatal testing?
- To lessen anxiety for expecting parents (correct)
- To ensure the child has no genetic markers
- To identify all genetic conditions in the fetus
- To provide detailed treatment options for all conditions
Which testing method is NOT definitively diagnostic for genetic conditions?
Which testing method is NOT definitively diagnostic for genetic conditions?
- Predictive testing
- Carrier testing
- Prenatal screening (correct)
- Prenatal diagnostic testing
Which best describes presymptomatic testing?
Which best describes presymptomatic testing?
Which of these tests should be performed first in carrier testing?
Which of these tests should be performed first in carrier testing?
What is a significant advantage of non-disclosure preimplantation genetic diagnosis?
What is a significant advantage of non-disclosure preimplantation genetic diagnosis?
Which type of testing evaluates the protein products of genes?
Which type of testing evaluates the protein products of genes?
For which of the following is predictive testing NOT typically used?
For which of the following is predictive testing NOT typically used?
Which test is performed at 15-18 weeks of gestation and provides a definitive diagnosis?
Which test is performed at 15-18 weeks of gestation and provides a definitive diagnosis?
What is a characteristic feature of autosomal recessive disorders?
What is a characteristic feature of autosomal recessive disorders?
What is the expected outcome for 85% of patients with stage 1-2, node-negative, ER+ breast cancer treated with tamoxifen?
What is the expected outcome for 85% of patients with stage 1-2, node-negative, ER+ breast cancer treated with tamoxifen?
Which of the following is a risk associated with chronic villi sampling?
Which of the following is a risk associated with chronic villi sampling?
What percentage of individuals with Familial Adenomatous Polyposis (FAP) develop polyps by age 35?
What percentage of individuals with Familial Adenomatous Polyposis (FAP) develop polyps by age 35?
What is the purpose of carrier screening in genetic testing?
What is the purpose of carrier screening in genetic testing?
Which of the following best describes a key characteristic of Hereditary Non-polyposis Colorectal Carcinoma (HNPCC)?
Which of the following best describes a key characteristic of Hereditary Non-polyposis Colorectal Carcinoma (HNPCC)?
What factor increases the necessity for more invasive prenatal genetic testing?
What factor increases the necessity for more invasive prenatal genetic testing?
In patients at high risk for colorectal cancer due to FAP, when should genetic testing ideally begin?
In patients at high risk for colorectal cancer due to FAP, when should genetic testing ideally begin?
Which of the following conditions is NOT an example of an autosomal recessive disorder?
Which of the following conditions is NOT an example of an autosomal recessive disorder?
What is the role of APOE-e4 in the context of Late Onset Alzheimer's Disease?
What is the role of APOE-e4 in the context of Late Onset Alzheimer's Disease?
In predictive testing, which statement is true regarding the BRCA1/2 mutation?
In predictive testing, which statement is true regarding the BRCA1/2 mutation?
What is a common recommendation prior to genetic testing for Huntington's Disease?
What is a common recommendation prior to genetic testing for Huntington's Disease?
What is the primary benefit of noninvasive prenatal genetic diagnosis?
What is the primary benefit of noninvasive prenatal genetic diagnosis?
What screening is mandatory in every U.S. state?
What screening is mandatory in every U.S. state?
Which genetic mutation is primarily associated with Hereditary Non-polyposis colorectal carcinoma (HNPCC)?
Which genetic mutation is primarily associated with Hereditary Non-polyposis colorectal carcinoma (HNPCC)?
Which management strategy is linked to the identification of women at increased risk for HBOC?
Which management strategy is linked to the identification of women at increased risk for HBOC?
What is the purpose of the Oncotype Dx test?
What is the purpose of the Oncotype Dx test?
By which age does the risk for developing early onset Alzheimer’s Disease increase significantly in children of affected parents?
By which age does the risk for developing early onset Alzheimer’s Disease increase significantly in children of affected parents?
When should individuals at high risk for colorectal cancer begin annual screenings?
When should individuals at high risk for colorectal cancer begin annual screenings?
What distinguishes disruption from deformation in tissue developmental abnormalities?
What distinguishes disruption from deformation in tissue developmental abnormalities?
During which prenatal developmental stage is abnormal cell differentiation most likely to cause structural anomalies?
During which prenatal developmental stage is abnormal cell differentiation most likely to cause structural anomalies?
What are the potential causes of dysplasia as described in developmental abnormalities?
What are the potential causes of dysplasia as described in developmental abnormalities?
Which of the following statements best defines malformation in prenatal development?
Which of the following statements best defines malformation in prenatal development?
What is one of the most common reasons to consider a genetic diagnosis in a newborn, particularly relating to muscle tone?
What is one of the most common reasons to consider a genetic diagnosis in a newborn, particularly relating to muscle tone?
What is the primary difference between prenatal screening and diagnostic testing?
What is the primary difference between prenatal screening and diagnostic testing?
In predictive testing, what does predispositional testing, such as for BRCA1 and BRCA2, indicate?
In predictive testing, what does predispositional testing, such as for BRCA1 and BRCA2, indicate?
Which genetic testing approach examines the inheritance of gene markers linked to genetic conditions?
Which genetic testing approach examines the inheritance of gene markers linked to genetic conditions?
What advantage does non-disclosure genetic testing provide for individuals with late-onset disorders?
What advantage does non-disclosure genetic testing provide for individuals with late-onset disorders?
What is a primary goal of prenatal testing concerning the management of newborns?
What is a primary goal of prenatal testing concerning the management of newborns?
What is the primary focus of biochemical testing in the context of genetic conditions?
What is the primary focus of biochemical testing in the context of genetic conditions?
What is the main purpose of carrier testing in genetic diagnostics?
What is the main purpose of carrier testing in genetic diagnostics?
Which type of genetic testing directly analyzes DNA and RNA?
Which type of genetic testing directly analyzes DNA and RNA?
What is the primary risk associated with amniocentesis?
What is the primary risk associated with amniocentesis?
What is the purpose of the Maternal Serum Screening?
What is the purpose of the Maternal Serum Screening?
Which of the following is a characteristic of autosomal recessive disorders?
Which of the following is a characteristic of autosomal recessive disorders?
What aspect of noninvasive prenatal genetic diagnosis can be considered a risk?
What aspect of noninvasive prenatal genetic diagnosis can be considered a risk?
What is the significance of testing for BRCA1/2 mutations in families?
What is the significance of testing for BRCA1/2 mutations in families?
What role does a pedigree play in genetic assessments?
What role does a pedigree play in genetic assessments?
Which testing method is characterized by the need to first test affected family members?
Which testing method is characterized by the need to first test affected family members?
Which of the following describes a benefit of chronic villi sampling?
Which of the following describes a benefit of chronic villi sampling?
What factor increases the likelihood of a major malformation if one minor malformation is observed?
What factor increases the likelihood of a major malformation if one minor malformation is observed?
What is a characteristic feature of predictive testing for Huntington Disease?
What is a characteristic feature of predictive testing for Huntington Disease?
What is the significance of conducting an extensive literature review during the diagnostic process for rare diseases?
What is the significance of conducting an extensive literature review during the diagnostic process for rare diseases?
Which prenatal factor is linked with an increased risk of birth defects?
Which prenatal factor is linked with an increased risk of birth defects?
Why is newborn screening mandatory in every state in the USA?
Why is newborn screening mandatory in every state in the USA?
Which of the following is a function of postnatal history assessment?
Which of the following is a function of postnatal history assessment?
How are major congenital anomalies defined in the context of genetic assessments?
How are major congenital anomalies defined in the context of genetic assessments?
What is a potential consequence of gathering inadequate family history in genetic evaluations?
What is a potential consequence of gathering inadequate family history in genetic evaluations?
What aspect of a genetic physical assessment aids in identifying subtle physical clues?
What aspect of a genetic physical assessment aids in identifying subtle physical clues?
Which condition is characterized by a lethal prognosis, typically resulting in death before age 1?
Which condition is characterized by a lethal prognosis, typically resulting in death before age 1?
What defines the craniosynostosis condition where the skull grows in a parallel direction due to early closure of sutures?
What defines the craniosynostosis condition where the skull grows in a parallel direction due to early closure of sutures?
Which feature is NOT commonly associated with Turner Syndrome?
Which feature is NOT commonly associated with Turner Syndrome?
Which symptom is directly associated with untreated Phenylketonuria (PKU)?
Which symptom is directly associated with untreated Phenylketonuria (PKU)?
Which of the following conditions typically presents with significant intellectual difficulties and a unique high-pitched cry?
Which of the following conditions typically presents with significant intellectual difficulties and a unique high-pitched cry?
Which of the following is a result of congenital Zika infection?
Which of the following is a result of congenital Zika infection?
Which characteristic is indicative of Crouzon Syndrome?
Which characteristic is indicative of Crouzon Syndrome?
What condition involves a low hairline at the back of the neck as a clinical feature?
What condition involves a low hairline at the back of the neck as a clinical feature?
Which characteristic is NOT associated with Apert Syndrome?
Which characteristic is NOT associated with Apert Syndrome?
Which feature is commonly associated with Albinism?
Which feature is commonly associated with Albinism?
What is the primary abnormality found in Treacher Collins Syndrome?
What is the primary abnormality found in Treacher Collins Syndrome?
Which characteristic is indicative of Huntington Disease?
Which characteristic is indicative of Huntington Disease?
Which condition is characterized by symptoms such as a prominent forehead and short limbs?
Which condition is characterized by symptoms such as a prominent forehead and short limbs?
In Wardenburg Syndrome, which feature is NOT typically present?
In Wardenburg Syndrome, which feature is NOT typically present?
What facial feature is associated with Cornelia de Lange Syndrome?
What facial feature is associated with Cornelia de Lange Syndrome?
Which syndrome is characterized by symptoms like rocker bottom feet and microcephaly?
Which syndrome is characterized by symptoms like rocker bottom feet and microcephaly?
Which condition is primarily identified in males and affects the cornea?
Which condition is primarily identified in males and affects the cornea?
Which condition is NOT associated with congenital heart defects?
Which condition is NOT associated with congenital heart defects?
Flashcards
Cytogenetic testing
Cytogenetic testing
Examines chromosomes for genetic conditions.
Linkage analysis
Linkage analysis
Looks for markers connected to genes causing genetic diseases.
Molecular/Direct testing
Molecular/Direct testing
Examines DNA and RNA for genetic conditions directly
Biochemical testing
Biochemical testing
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Prenatal screening
Prenatal screening
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Prenatal diagnostic testing
Prenatal diagnostic testing
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Predictive/Predispositional testing
Predictive/Predispositional testing
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Presymptomatic testing
Presymptomatic testing
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Oncotype Dx
Oncotype Dx
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FAP
FAP
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HNPCC
HNPCC
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Prophylactic Colectomy
Prophylactic Colectomy
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Total Abdominal Hysterectomy and Bilateral Salpingo-Oophorectomy
Total Abdominal Hysterectomy and Bilateral Salpingo-Oophorectomy
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Huntington Disease Testing
Huntington Disease Testing
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APOE-e4
APOE-e4
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Presenilin 1 (PSEN1)
Presenilin 1 (PSEN1)
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Precursor Protein (APP)
Precursor Protein (APP)
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Presenilin 2 (PSEN2)
Presenilin 2 (PSEN2)
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Maternal Serum Screening
Maternal Serum Screening
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Triple/Quad Test
Triple/Quad Test
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Invasive Prenatal Testing
Invasive Prenatal Testing
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Chronic Villi Sampling (CVS)
Chronic Villi Sampling (CVS)
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Amniocentesis
Amniocentesis
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Carrier Screening
Carrier Screening
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Autosomal Recessive Disorders
Autosomal Recessive Disorders
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Newborn Screening
Newborn Screening
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Predictive Testing
Predictive Testing
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Deformation
Deformation
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Disruption
Disruption
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Dysplasia
Dysplasia
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Malformation
Malformation
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Critical Period
Critical Period
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What are the benefits for couples having prenatal testing?
What are the benefits for couples having prenatal testing?
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Non-disclosure preimplantation genetic diagnosis
Non-disclosure preimplantation genetic diagnosis
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What is the main goal of prenatal screening?
What is the main goal of prenatal screening?
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What is the key distinction between prenatal screening and diagnostic testing?
What is the key distinction between prenatal screening and diagnostic testing?
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What is the difference between predispositional and presymptomatic testing?
What is the difference between predispositional and presymptomatic testing?
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Why does carrier testing usually start with the woman?
Why does carrier testing usually start with the woman?
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Example of direct/molecular testing
Example of direct/molecular testing
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Example of biochemical testing
Example of biochemical testing
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Noninvasive Prenatal Screening
Noninvasive Prenatal Screening
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Invasive Diagnostic Testing
Invasive Diagnostic Testing
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Genetic Testing for Cancer
Genetic Testing for Cancer
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Pedigree's Purpose
Pedigree's Purpose
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Prenatal History: What to Track
Prenatal History: What to Track
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Perinatal History: Birth Details
Perinatal History: Birth Details
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Postnatal History: Growth & Development
Postnatal History: Growth & Development
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Genetic Physical Assessment: Finding Clues
Genetic Physical Assessment: Finding Clues
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Major Anomalies: Impact
Major Anomalies: Impact
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Minor Anomalies: Warning Signs
Minor Anomalies: Warning Signs
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Anomalies and Major Malformation Risk
Anomalies and Major Malformation Risk
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Hypotonia in newborns
Hypotonia in newborns
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Importance of diagnosing hypotonia
Importance of diagnosing hypotonia
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What is Turner Syndrome?
What is Turner Syndrome?
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What is Macrocephaly?
What is Macrocephaly?
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What is Microcephaly?
What is Microcephaly?
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Cri-du-Chat Syndrome
Cri-du-Chat Syndrome
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PKU (Phenylketonuria)
PKU (Phenylketonuria)
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Craniosynostosis
Craniosynostosis
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What is Apert Syndrome?
What is Apert Syndrome?
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What are the eye features in Apert Syndrome?
What are the eye features in Apert Syndrome?
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What is Wardenburg Syndrome characterized by?
What is Wardenburg Syndrome characterized by?
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What are the key features of Albinism?
What are the key features of Albinism?
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What is Trisomy 13?
What is Trisomy 13?
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What are the prominent features of Hurler Syndrome?
What are the prominent features of Hurler Syndrome?
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What is Neurofibromatosis?
What is Neurofibromatosis?
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What is Fragile X Syndrome?
What is Fragile X Syndrome?
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What is Cornelia de Lange Syndrome?
What is Cornelia de Lange Syndrome?
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What is Velo-Cardo-Facial Syndrome 22q Microdeletion?
What is Velo-Cardo-Facial Syndrome 22q Microdeletion?
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Study Notes
Genetic Testing: Across the Lifespan
-
Types of Genetic Testing:
- Cytogenetic testing: Examines chromosomes.
- Linkage analysis: Looks at markers inherited with a gene that causes a genetic condition.
- Direct or molecular testing: Directly examines DNA and RNA.
- Biochemical testing: Examines protein products of genes.
-
Genetic Testing Availability:
- Prenatal diagnosis
- Carrier testing (always test women first).
- Confirmation of a genetic diagnosis.
- Predictive testing:
- Predispositional: Testing for BRCA1/2; doesn't mean disease development, just higher risk.
- Presymptomatic: Positive test for Huntington's means eventual disease development with enough time.
- Prenatal Testing includes screening and diagnostic testing.
- Screening is not definitive, and indicates risk of certain birth defects or chromosomal abnormalities.
- Diagnostic testing indicates specific genetic conditions in a fetus.
Ethnic Backgrounds at Increased Risk
- Ashkenazi Jewish: Gaucher disease, cystic fibrosis, Tay-Sachs, Canavan disease, Fanconi anemia, Niemann-Pick, and Bloom syndrome.
- French-Canadian: Tyrosinemia, Tay-Sachs disease.
- African-American: Sickle cell anemia.
- Mediterranean: Beta-thalassemia.
- Southwest Asian: Beta-thalassemia, Alpha-thalassemia.
- Northern European: Beta-thalassemia, Alpha-thalassemia, Hemochromatosis, Alpha-antitrypsin deficiency.
Goals of Prenatal Testing
- Lessen anxiety, especially in couples with a strong family history of genetic conditions.
- Treat some conditions prenatally (e.g., neural tube defects).
- Allow couples to prepare for a child with a genetic condition.
- Give families the option of having their child born in a healthcare facility with appropriate resources.
- Enable some infertile couples to have a child without the genetic condition (e.g., using donor gametes or preimplantation genetic diagnosis).
Types of Prenatal Testing
-
Noninvasive Prenatal Screening:
- Maternal serum screening
- Ultrasound
-
Invasive Diagnostic Testing:
- Chronic villi sampling (11-13 weeks) -increased risk of miscarriage ~1:150
- Amniocentesis (15-18 weeks) -increased risk of miscarriage ~1:200
- Maternal Serum Screening- Blood test to identify women at increased risk of birth defects (15-20 weeks).
Previous Child with Chromosome Abnormalities
- Previous child with a chromosome abnormality
- Presence of a structural chromosome abnormality in one of the parents
- Family history of a genetic disorder
- Abnormal maternal serum or ultrasound
Noninvasive Prenatal Genetic Diagnosis
- Benefits: definitive diagnosis, less risky, less expensive than invasive testing.
- Risks: decision to terminate, decrease in services for children with Down syndrome.
Carrier Screening
- Testing identifies individuals with genes for a genetic condition, without symptoms, that is inherited in an autosomal recessive manner.
- Both genes must be abnormal for the disorder to be expressed.
- Examples include PKU, Sickle Cell Anemia, Cystic Fibrosis, and Tay Sachs disease.
Newborn Screening
- Mandatory in most US states.
- Identifies PKU and hypothyroidism, as well as other conditions.
Predictive Testing (2 Types)
- Predispositional:
- Genetic testing for BRCA1/2 mutations shows risk for, but does not guarantee, breast cancer.
- Presymptomatic:
- Mutation analysis for Huntington's Disease determines if symptoms will appear, given enough time.
Genetic Testing for Cancer
- Families with a strong family history of cancer (especially at a young age) have a greater chance of finding a mutation using testing.
Predictive Testing for other conditions
- Detailed predictive testing is available for various conditions, including late-onset Alzheimer's disease. This assesses the APOE-e4 genetic markers.
Other Important Notes
- Oncotype Dx Story: A diagnostic assay for breast cancer recurrence.
- Familial Adenomatous Polyposis (FAP): High risk for colon cancer development.
- Hereditary Non-polyposis Colorectal Carcinoma (HNPCC): Cancer occurs at a younger age; usually before age 50.
- Whole Genome Sequencing: Used to diagnosis rare diseases.
- Prenatal History: Important factors, including multiple gestation.
- Anomalies: Major and minor anomalies.
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Description
Explore the various types of genetic testing available throughout life, including cytogenetic testing, linkage analysis, and more. This quiz covers topics such as prenatal diagnosis, carrier testing, and predictive testing methods. Understand the implications of genetic tests and their impact on health.
