Genetic Counseling and Investigations

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What is a limitation of microarrays in detecting chromosomal abnormalities?

They cannot detect structural rearrangements (correct)

They are only used for gene expression analysis

They are not quantitative

They can only detect point mutations

What type of genetic test investigates a group of genes responsible for a specific clinical problem?

Gene panel testing (correct)

Microarray analysis

Whole genome sequencing

Whole exome sequencing

What is the main advantage of Whole Genome Sequencing (WGS) over Whole Exome Sequencing (WES)?

WGS is more expensive than WES

WGS includes non-coding regions (correct)

WGS is faster than WES

WGS is less accurate than WES

What is the goal of gene-based therapies?

To replace a mutated gene with a functional copy Signup and view all the answers

What is the main goal of genetic counseling for individuals affected by or at risk of a genetic condition?

To consider the implications of the disease or risk of disease for other family members Signup and view all the answers

What type of genetic test is most likely to replace Whole Exome Sequencing (WES) in the near future?

Whole Genome Sequencing (WGS) Signup and view all the answers

What is the primary application of fluorescent in situ hybridization (FISH)?

Detection of microdeletions in specific chromosomal sequences Signup and view all the answers

What is the main advantage of microarray genomic hybridization over cytogenetic methods?

Higher sensitivity in detecting chromosomal alterations Signup and view all the answers

What is karyotyping used to detect?

Chromosomal structural rearrangements and numerical alterations Signup and view all the answers

What is the term for a type of genetic test that analyzes the coding regions of the genome?

Whole exome sequencing Signup and view all the answers

What is the primary application of polymerase chain reaction (PCR)?

Amplification of a specific target within the genome for sequencing Signup and view all the answers

In a phenotypically normal carrier, what is the chromosomal status?

45 chromosomes Signup and view all the answers

What is the purpose of parental chromosome analysis in translocation Down syndrome?

To determine if one of the parents is a carrier of the translocation Signup and view all the answers

What is the risk of recurrence of translocation Down syndrome if the mother is the carrier?

10%–15% Signup and view all the answers

What is the goal of genetic investigations in the context of genetic counseling?

To clarify the magnitude of risk and severity of disorder Signup and view all the answers

What is the result if a parent carries the rare 21:21 translocation?

All offspring will have Down syndrome Signup and view all the answers

What is the positive predictive value of non-invasive prenatal testing (NIPT) as a primary screen?

80% Signup and view all the answers

What is the significance of decreased alpha fetoprotein and unconjugated estriol in a quad test?

It indicates a higher risk of Down syndrome Signup and view all the answers